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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: 7-90282987-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90282987&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90282987,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000389297.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "NM_001039706.3",
"protein_id": "NP_001034795.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 941,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": "ENST00000389297.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "ENST00000389297.8",
"protein_id": "ENSP00000373948.4",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 941,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": "NM_001039706.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1414G>T",
"hgvs_p": "p.Val472Leu",
"transcript": "NM_001160138.2",
"protein_id": "NP_001153610.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 923,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1414G>T",
"hgvs_p": "p.Val472Leu",
"transcript": "ENST00000497910.5",
"protein_id": "ENSP00000419549.1",
"transcript_support_level": 2,
"aa_start": 472,
"aa_end": null,
"aa_length": 923,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "NM_001363438.1",
"protein_id": "NP_001350367.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 875,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1117G>T",
"hgvs_p": "p.Val373Leu",
"transcript": "ENST00000457170.6",
"protein_id": "ENSP00000392365.2",
"transcript_support_level": 5,
"aa_start": 373,
"aa_end": null,
"aa_length": 514,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.217G>T",
"hgvs_p": "p.Val73Leu",
"transcript": "ENST00000449577.5",
"protein_id": "ENSP00000391571.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 478,
"cds_start": 217,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "XM_011516577.3",
"protein_id": "XP_011514879.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 959,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 5981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "XM_011516578.3",
"protein_id": "XP_011514880.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 943,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1414G>T",
"hgvs_p": "p.Val472Leu",
"transcript": "XM_017012624.2",
"protein_id": "XP_016868113.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 941,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "XM_017012625.2",
"protein_id": "XP_016868114.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 924,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 5876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "XM_017012628.2",
"protein_id": "XP_016868117.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 893,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1249G>T",
"hgvs_p": "p.Val417Leu",
"transcript": "XM_017012629.2",
"protein_id": "XP_016868118.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 886,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1414G>T",
"hgvs_p": "p.Val472Leu",
"transcript": "XM_047420845.1",
"protein_id": "XP_047276801.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 877,
"cds_start": 1414,
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"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1180G>T",
"hgvs_p": "p.Val394Leu",
"transcript": "XM_017012631.2",
"protein_id": "XP_016868120.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 863,
"cds_start": 1180,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "XM_047420846.1",
"protein_id": "XP_047276802.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 860,
"cds_start": 1468,
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"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "XM_017012632.2",
"protein_id": "XP_016868121.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 858,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 5678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Leu",
"transcript": "XM_017012635.3",
"protein_id": "XP_016868124.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 812,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Leu",
"transcript": "XM_047420847.1",
"protein_id": "XP_047276803.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 812,
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"cdna_start": 1368,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Leu",
"transcript": "XM_047420848.1",
"protein_id": "XP_047276804.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 812,
"cds_start": 1027,
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"cdna_start": 1466,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1414G>T",
"hgvs_p": "p.Val472Leu",
"transcript": "XM_047420849.1",
"protein_id": "XP_047276805.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 811,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Val490Leu",
"transcript": "XM_047420850.1",
"protein_id": "XP_047276806.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 800,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
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