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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: 11-68044303-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68044303&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68044303,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_006019.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"transcript": "NM_006019.4",
"protein_id": "NP_006010.2",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 830,
"cds_start": 979,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265686.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006019.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"transcript": "ENST00000265686.8",
"protein_id": "ENSP00000265686.3",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 830,
"cds_start": 979,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006019.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265686.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111*",
"transcript": "ENST00000532635.5",
"protein_id": "ENSP00000434407.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 614,
"cds_start": 331,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532635.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"transcript": "NM_001440552.1",
"protein_id": "NP_001427481.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 830,
"cds_start": 979,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440552.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"transcript": "NM_001440553.1",
"protein_id": "NP_001427482.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 830,
"cds_start": 979,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440553.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"transcript": "NM_001440554.1",
"protein_id": "NP_001427483.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 830,
"cds_start": 979,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440554.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313*",
"transcript": "NM_001440555.1",
"protein_id": "NP_001427484.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 816,
"cds_start": 937,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440555.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313*",
"transcript": "NM_001440556.1",
"protein_id": "NP_001427485.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 816,
"cds_start": 937,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440556.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310*",
"transcript": "ENST00000698255.1",
"protein_id": "ENSP00000513630.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 813,
"cds_start": 928,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698255.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"transcript": "NM_001440557.1",
"protein_id": "NP_001427486.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 760,
"cds_start": 979,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440557.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"transcript": "NM_001440558.1",
"protein_id": "NP_001427487.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 760,
"cds_start": 979,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440558.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "NM_001440561.1",
"protein_id": "NP_001427490.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 759,
"cds_start": 766,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440561.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "NM_001440562.1",
"protein_id": "NP_001427491.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 759,
"cds_start": 766,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440562.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313*",
"transcript": "NM_001440563.1",
"protein_id": "NP_001427492.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 746,
"cds_start": 937,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440563.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "NM_001440564.1",
"protein_id": "NP_001427493.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 745,
"cds_start": 724,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440564.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227*",
"transcript": "NM_001440565.1",
"protein_id": "NP_001427494.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 730,
"cds_start": 679,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440565.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "NM_001440566.1",
"protein_id": "NP_001427495.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 689,
"cds_start": 766,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440566.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "NM_001440567.1",
"protein_id": "NP_001427496.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 676,
"cds_start": 766,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440567.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170*",
"transcript": "ENST00000698254.1",
"protein_id": "ENSP00000513629.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 673,
"cds_start": 508,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698254.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111*",
"transcript": "NM_006053.4",
"protein_id": "NP_006044.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 614,
"cds_start": 331,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006053.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Arg29*",
"transcript": "NM_001351059.2",
"protein_id": "NP_001337988.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 532,
"cds_start": 85,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351059.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160*",
"transcript": "ENST00000529364.1",
"protein_id": "ENSP00000431437.1",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 288,
"cds_start": 478,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529364.1"
},
{
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Autosomal recessive osteopetrosis 1|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}