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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: 16-50304475-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50304475&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50304475,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000673801.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "NM_001114.5",
"protein_id": "NP_001105.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 6271,
"mane_select": "ENST00000673801.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "ENST00000673801.1",
"protein_id": "ENSP00000501053.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 6271,
"mane_select": "NM_001114.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "ENST00000254235.7",
"protein_id": "ENSP00000254235.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 6138,
"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": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "n.1484G>A",
"hgvs_p": null,
"transcript": "ENST00000567277.6",
"protein_id": "ENSP00000455670.2",
"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": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "ENST00000394697.7",
"protein_id": "ENSP00000378187.2",
"transcript_support_level": 5,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "NM_001286057.2",
"protein_id": "NP_001272986.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 734,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "ENST00000566433.6",
"protein_id": "ENSP00000457409.2",
"transcript_support_level": 5,
"aa_start": 495,
"aa_end": null,
"aa_length": 734,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_011522835.3",
"protein_id": "XP_011521137.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 6227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_011522836.3",
"protein_id": "XP_011521138.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_011522837.4",
"protein_id": "XP_011521139.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 6193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_011522838.3",
"protein_id": "XP_011521140.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_011522839.3",
"protein_id": "XP_011521141.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 6257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_011522840.4",
"protein_id": "XP_011521142.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 6196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_011522842.3",
"protein_id": "XP_011521144.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
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"cdna_start": 1912,
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"cdna_length": 6319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433550.1",
"protein_id": "XP_047289506.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433551.1",
"protein_id": "XP_047289507.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
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"cds_start": 1484,
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"cdna_start": 1993,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433552.1",
"protein_id": "XP_047289508.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
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"cds_length": 3261,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433553.1",
"protein_id": "XP_047289509.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 6372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433554.1",
"protein_id": "XP_047289510.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
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"cdna_start": 1820,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433555.1",
"protein_id": "XP_047289511.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
"cds_end": null,
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"cdna_start": 1789,
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"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433556.1",
"protein_id": "XP_047289512.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
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"cds_length": 3243,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 6175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"transcript": "XM_047433557.1",
"protein_id": "XP_047289513.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 6301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY7",
"gene_hgnc_id": 238,
"hgvs_c": "c.1484G>A",
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