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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-10390469-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10390469&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10390469,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005885.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "NM_005885.4",
"protein_id": "NP_005876.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 910,
"cds_start": 545,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274140.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005885.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000274140.10",
"protein_id": "ENSP00000274140.4",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 910,
"cds_start": 545,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005885.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274140.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000930189.1",
"protein_id": "ENSP00000600248.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 919,
"cds_start": 545,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930189.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000863549.1",
"protein_id": "ENSP00000533608.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 915,
"cds_start": 545,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863549.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000863552.1",
"protein_id": "ENSP00000533611.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 912,
"cds_start": 545,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863552.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000956725.1",
"protein_id": "ENSP00000626784.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 880,
"cds_start": 545,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956725.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000863551.1",
"protein_id": "ENSP00000533610.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 873,
"cds_start": 545,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863551.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000956724.1",
"protein_id": "ENSP00000626783.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 867,
"cds_start": 401,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956724.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000863553.1",
"protein_id": "ENSP00000533612.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 865,
"cds_start": 545,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863553.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000863550.1",
"protein_id": "ENSP00000533609.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 864,
"cds_start": 401,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863550.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "ENST00000956723.1",
"protein_id": "ENSP00000626782.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 863,
"cds_start": 545,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956723.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "NM_001270660.2",
"protein_id": "NP_001257589.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 862,
"cds_start": 401,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270660.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000449913.6",
"protein_id": "ENSP00000414643.2",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 862,
"cds_start": 401,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449913.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "NM_001270661.2",
"protein_id": "NP_001257590.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 805,
"cds_start": 230,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270661.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "ENST00000503788.5",
"protein_id": "ENSP00000425930.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 805,
"cds_start": 230,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503788.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "XM_011513932.3",
"protein_id": "XP_011512234.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 842,
"cds_start": 341,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513932.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_047416612.1",
"protein_id": "XP_047272568.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 799,
"cds_start": 545,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416612.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_011513934.3",
"protein_id": "XP_011512236.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 791,
"cds_start": 545,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513934.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_011513936.4",
"protein_id": "XP_011512238.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 637,
"cds_start": 545,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513936.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_017008944.3",
"protein_id": "XP_016864433.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 460,
"cds_start": 545,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008944.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.191-3613C>T",
"hgvs_p": null,
"transcript": "ENST00000863554.1",
"protein_id": "ENSP00000533613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": null,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.247-1073C>T",
"hgvs_p": null,
"transcript": "XM_047416611.1",
"protein_id": "XP_047272567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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"biotype": "retained_intron",
"feature": "ENST00000506131.1"
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{
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"protein_coding": false,
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],
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"exon_count": 6,
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{
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{
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],
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{
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"transcript": "XR_925577.3",
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"feature": "XR_925577.3"
},
{
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"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "MARCHF6",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000502795.5"
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],
"gene_symbol": "MARCHF6",
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"dbsnp": "rs149421657",
"frequency_reference_population": 0.000120833865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 195,
"gnomad_exomes_af": 0.000124507,
"gnomad_genomes_af": 0.0000855162,
"gnomad_exomes_ac": 182,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008514732122421265,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.159,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.96,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005885.4",
"gene_symbol": "MARCHF6",
"hgnc_id": 30550,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}