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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: 16-56935236-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56935236&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56935236,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000439977.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "NM_014685.4",
"protein_id": "NP_055500.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": "ENST00000439977.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "ENST00000439977.7",
"protein_id": "ENSP00000409555.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": "NM_014685.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "ENST00000300302.9",
"protein_id": "ENSP00000300302.5",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 390,
"cds_start": 149,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "ENST00000344114.8",
"protein_id": "ENSP00000340931.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 232,
"cds_start": 149,
"cds_end": null,
"cds_length": 699,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "n.246G>T",
"hgvs_p": null,
"transcript": "ENST00000570273.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "NM_001010989.3",
"protein_id": "NP_001010989.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 390,
"cds_start": 149,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "NM_001436349.1",
"protein_id": "NP_001423278.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 379,
"cds_start": 149,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "NM_001436350.1",
"protein_id": "NP_001423279.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 366,
"cds_start": 149,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "ENST00000379792.6",
"protein_id": "ENSP00000369118.2",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 366,
"cds_start": 149,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.23G>T",
"hgvs_p": "p.Arg8Leu",
"transcript": "NM_001436351.1",
"protein_id": "NP_001423280.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 349,
"cds_start": 23,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-52G>T",
"hgvs_p": null,
"transcript": "NM_001436352.1",
"protein_id": "NP_001423281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-131G>T",
"hgvs_p": null,
"transcript": "NM_001436353.1",
"protein_id": "NP_001423282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-131G>T",
"hgvs_p": null,
"transcript": "NM_001436354.1",
"protein_id": "NP_001423283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "NM_001436355.1",
"protein_id": "NP_001423284.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 297,
"cds_start": 149,
"cds_end": null,
"cds_length": 894,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.-168G>T",
"hgvs_p": null,
"transcript": "NM_001436356.1",
"protein_id": "NP_001423285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.149G>T",
"hgvs_p": "p.Arg50Leu",
"transcript": "NM_001272103.2",
"protein_id": "NP_001259032.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 275,
"cds_start": 149,
"cds_end": null,
"cds_length": 828,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.23G>T",
"hgvs_p": "p.Arg8Leu",
"transcript": "ENST00000563343.5",
"protein_id": "ENSP00000455094.1",
"transcript_support_level": 4,
"aa_start": 8,
"aa_end": null,
"aa_length": 159,
"cds_start": 23,
"cds_end": null,
"cds_length": 480,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "c.23G>T",
"hgvs_p": "p.Arg8Leu",
"transcript": "ENST00000569429.5",
"protein_id": "ENSP00000457321.1",
"transcript_support_level": 4,
"aa_start": 8,
"aa_end": null,
"aa_length": 149,
"cds_start": 23,
"cds_end": null,
"cds_length": 451,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "n.252G>T",
"hgvs_p": null,
"transcript": "ENST00000562914.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "n.272G>T",
"hgvs_p": null,
"transcript": "ENST00000566550.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "n.247G>T",
"hgvs_p": null,
"transcript": "ENST00000568676.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD1",
"gene_hgnc_id": 13744,
"hgvs_c": "n.247G>T",
"hgvs_p": null,
"transcript": "ENST00000569569.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
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{
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
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}
],
"message": null
}