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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: 6-13286236-GTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=13286236&ref=GTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 13286236,
"ref": "GTT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001374581.2",
"consequences": [
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1727+23_1727+24delTT",
"hgvs_p": null,
"transcript": "NM_030948.6",
"protein_id": "NP_112210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332995.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030948.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1727+23_1727+24delTT",
"hgvs_p": null,
"transcript": "ENST00000332995.12",
"protein_id": "ENSP00000329880.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030948.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332995.12"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Phe584fs",
"transcript": "NM_001374581.2",
"protein_id": "NP_001361510.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 596,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374581.2"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Phe584fs",
"transcript": "ENST00000674595.1",
"protein_id": "ENSP00000502157.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 596,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674595.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1474_1475delTT",
"hgvs_p": "p.Phe492fs",
"transcript": "NM_001374583.2",
"protein_id": "NP_001361512.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 504,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374583.2"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1753_1754delTT",
"hgvs_p": "p.Phe585fs",
"transcript": "XM_017010458.3",
"protein_id": "XP_016865947.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 597,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010458.3"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1750_1751delTT",
"hgvs_p": "p.Phe584fs",
"transcript": "XM_017010459.3",
"protein_id": "XP_016865948.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 596,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010459.3"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1937+23_1937+24delTT",
"hgvs_p": null,
"transcript": "NM_001322314.4",
"protein_id": "NP_001309243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322314.4"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1937+23_1937+24delTT",
"hgvs_p": null,
"transcript": "ENST00000675203.2",
"protein_id": "ENSP00000502172.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675203.2"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1934+23_1934+24delTT",
"hgvs_p": null,
"transcript": "NM_001322310.2",
"protein_id": "NP_001309239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322310.2"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1727+23_1727+24delTT",
"hgvs_p": null,
"transcript": "NM_001242648.4",
"protein_id": "NP_001229577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242648.4"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1727+23_1727+24delTT",
"hgvs_p": null,
"transcript": "NM_001322308.3",
"protein_id": "NP_001309237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322308.3"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1727+23_1727+24delTT",
"hgvs_p": null,
"transcript": "NM_001322309.3",
"protein_id": "NP_001309238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322309.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1727+23_1727+24delTT",
"hgvs_p": null,
"transcript": "ENST00000674637.1",
"protein_id": "ENSP00000501634.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674637.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1727+23_1727+24delTT",
"hgvs_p": null,
"transcript": "ENST00000676159.1",
"protein_id": "ENSP00000501921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676159.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1658+23_1658+24delTT",
"hgvs_p": null,
"transcript": "NM_001322313.2",
"protein_id": "NP_001309242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322313.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1658+23_1658+24delTT",
"hgvs_p": null,
"transcript": "ENST00000687600.1",
"protein_id": "ENSP00000509410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
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"cds_length": 1674,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687600.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1589+23_1589+24delTT",
"hgvs_p": null,
"transcript": "ENST00000689548.1",
"protein_id": "ENSP00000509837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000689548.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1451+23_1451+24delTT",
"hgvs_p": null,
"transcript": "NM_001322311.2",
"protein_id": "NP_001309240.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322311.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1451+23_1451+24delTT",
"hgvs_p": null,
"transcript": "NM_001322312.3",
"protein_id": "NP_001309241.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322312.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1451+23_1451+24delTT",
"hgvs_p": null,
"transcript": "ENST00000482982.2",
"protein_id": "ENSP00000501726.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482982.2"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHACTR1",
"gene_hgnc_id": 20990,
"hgvs_c": "c.1451+23_1451+24delTT",
"hgvs_p": null,
"transcript": "ENST00000676234.1",
"protein_id": "ENSP00000502037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676234.1"
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}
],
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}