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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: 10-114575487-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114575487&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114575487,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002313.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Phe164Leu",
"transcript": "NM_002313.7",
"protein_id": "NP_002304.3",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 778,
"cds_start": 492,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533213.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002313.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Phe164Leu",
"transcript": "ENST00000533213.7",
"protein_id": "ENSP00000433629.3",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 778,
"cds_start": 492,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002313.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533213.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Phe164Leu",
"transcript": "ENST00000649363.1",
"protein_id": "ENSP00000497150.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 834,
"cds_start": 492,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649363.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Phe104Leu",
"transcript": "NM_001322882.2",
"protein_id": "NP_001309811.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 748,
"cds_start": 312,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322882.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Phe104Leu",
"transcript": "ENST00000369256.6",
"protein_id": "ENSP00000358260.3",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 748,
"cds_start": 312,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369256.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Phe104Leu",
"transcript": "NM_001003407.2",
"protein_id": "NP_001003407.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 718,
"cds_start": 312,
"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": "NM_001003407.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Phe104Leu",
"transcript": "ENST00000392955.8",
"protein_id": "ENSP00000376682.4",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 718,
"cds_start": 312,
"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": "ENST00000392955.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Phe104Leu",
"transcript": "NM_001322883.2",
"protein_id": "NP_001309812.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 683,
"cds_start": 312,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322883.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.261C>G",
"hgvs_p": "p.Phe87Leu",
"transcript": "NM_001322884.3",
"protein_id": "NP_001309813.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 668,
"cds_start": 261,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322884.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.261C>G",
"hgvs_p": "p.Phe87Leu",
"transcript": "NM_001322885.3",
"protein_id": "NP_001309814.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 666,
"cds_start": 261,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322885.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "NM_001352440.1",
"protein_id": "NP_001339369.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 655,
"cds_start": 264,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352440.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "ENST00000651023.2",
"protein_id": "ENSP00000499023.2",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 655,
"cds_start": 264,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651023.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.261C>G",
"hgvs_p": "p.Phe87Leu",
"transcript": "NM_001322886.3",
"protein_id": "NP_001309815.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 654,
"cds_start": 261,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322886.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Phe104Leu",
"transcript": "NM_001322887.2",
"protein_id": "NP_001309816.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 636,
"cds_start": 312,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322887.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "NM_001352441.1",
"protein_id": "NP_001339370.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 620,
"cds_start": 264,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352441.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Phe88Leu",
"transcript": "ENST00000707119.1",
"protein_id": "ENSP00000516747.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 620,
"cds_start": 264,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707119.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.36C>G",
"hgvs_p": "p.Phe12Leu",
"transcript": "NM_001352442.2",
"protein_id": "NP_001339371.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 591,
"cds_start": 36,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352442.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.36C>G",
"hgvs_p": "p.Phe12Leu",
"transcript": "ENST00000651092.1",
"protein_id": "ENSP00000499163.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 425,
"cds_start": 36,
"cds_end": null,
"cds_length": 1279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651092.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Phe151Leu",
"transcript": "XM_024448010.2",
"protein_id": "XP_024303778.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 833,
"cds_start": 453,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448010.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Phe151Leu",
"transcript": "XM_047425229.1",
"protein_id": "XP_047281185.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 795,
"cds_start": 453,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425229.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.453C>G",
"hgvs_p": "p.Phe151Leu",
"transcript": "XM_024448011.2",
"protein_id": "XP_024303779.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 793,
"cds_start": 453,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448011.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Phe104Leu",
"transcript": "XM_006717837.3",
"protein_id": "XP_006717900.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 788,
"cds_start": 312,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717837.3"
},
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{
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"missense_variant"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "ABLIM1",
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"transcript": "ENST00000481974.1",
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"biotype": "retained_intron",
"feature": "ENST00000481974.1"
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],
"gene_symbol": "ABLIM1",
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"dbsnp": "rs985273",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7735003232955933,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.667,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9968,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.308,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002313.7",
"gene_symbol": "ABLIM1",
"hgnc_id": 78,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Phe164Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}