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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: 3-169115672-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=169115672&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 169115672,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000651503.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Gln734*",
"transcript": "NM_004991.4",
"protein_id": "NP_004982.2",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2200,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 5462,
"mane_select": "ENST00000651503.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Gln734*",
"transcript": "ENST00000651503.2",
"protein_id": "ENSP00000498411.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2200,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 5462,
"mane_select": "NM_004991.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Gln611*",
"transcript": "ENST00000264674.7",
"protein_id": "ENSP00000264674.3",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 1116,
"cds_start": 1831,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Gln547*",
"transcript": "ENST00000433243.6",
"protein_id": "ENSP00000394302.2",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1639,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "ENST00000628990.2",
"protein_id": "ENSP00000486104.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "ENST00000464456.5",
"protein_id": "ENSP00000419770.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "ENST00000460814.5",
"protein_id": "ENSP00000420466.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 1003,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Gln734*",
"transcript": "NM_001366466.2",
"protein_id": "NP_001353395.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2200,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 5435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Gln734*",
"transcript": "ENST00000494292.6",
"protein_id": "ENSP00000417899.1",
"transcript_support_level": 5,
"aa_start": 734,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2200,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Gln611*",
"transcript": "NM_001105077.4",
"protein_id": "NP_001098547.3",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1116,
"cds_start": 1831,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 4892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Gln547*",
"transcript": "NM_001366467.2",
"protein_id": "NP_001353396.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1639,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Gln547*",
"transcript": "NM_001366468.2",
"protein_id": "NP_001353397.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1639,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Gln547*",
"transcript": "ENST00000472280.5",
"protein_id": "ENSP00000420048.1",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1639,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "NM_001105078.4",
"protein_id": "NP_001098548.2",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1636,
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"cdna_start": 1888,
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"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "NM_001205194.2",
"protein_id": "NP_001192123.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "NM_001366469.2",
"protein_id": "NP_001353398.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
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"cds_start": 1636,
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"cdna_start": 2574,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "NM_005241.4",
"protein_id": "NP_005232.2",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1636,
"cds_end": null,
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"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "ENST00000468789.5",
"protein_id": "ENSP00000419995.1",
"transcript_support_level": 2,
"aa_start": 546,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Gln547*",
"transcript": "NM_001163999.2",
"protein_id": "NP_001157471.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1043,
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"cdna_start": 1908,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Gln547*",
"transcript": "NM_001366470.2",
"protein_id": "NP_001353399.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1639,
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"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "NM_001164000.2",
"protein_id": "NP_001157472.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Gln546*",
"transcript": "NM_001366471.2",
"protein_id": "NP_001353400.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1636,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 4783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "MECOM",
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"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"transcript": "XM_047447693.1",
"protein_id": "XP_047303649.1",
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"aa_start": 223,
"aa_end": null,
"aa_length": 719,
"cds_start": 667,
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"cds_length": 2160,
"cdna_start": 919,
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"cdna_length": 3814,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Gln222*",
"transcript": "XM_047447694.1",
"protein_id": "XP_047303650.1",
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"aa_start": 222,
"aa_end": null,
"aa_length": 718,
"cds_start": 664,
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"cds_length": 2157,
"cdna_start": 916,
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"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MECOM",
"gene_hgnc_id": 3498,
"dbsnp": "rs1553838272",
"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": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.587,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000651503.2",
"gene_symbol": "MECOM",
"hgnc_id": 3498,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Gln734*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "null",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Adenoid cystic carcinoma",
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}