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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: 8-132610197-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132610197&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132610197,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000620350.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Thr370Ile",
"transcript": "NM_012472.6",
"protein_id": "NP_036604.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 466,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": "ENST00000620350.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Thr370Ile",
"transcript": "ENST00000620350.5",
"protein_id": "ENSP00000484634.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 466,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": "NM_012472.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Thr370Ile",
"transcript": "ENST00000519595.5",
"protein_id": "ENSP00000429791.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 466,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1100C>T",
"hgvs_p": "p.Thr367Ile",
"transcript": "ENST00000250173.5",
"protein_id": "ENSP00000250173.2",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 411,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1100C>T",
"hgvs_p": "p.Thr367Ile",
"transcript": "ENST00000518642.5",
"protein_id": "ENSP00000428610.1",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 411,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Thr350Ile",
"transcript": "NM_001321961.2",
"protein_id": "NP_001308890.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 446,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Thr288Ile",
"transcript": "NM_001321962.2",
"protein_id": "NP_001308891.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 384,
"cds_start": 863,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Thr250Ile",
"transcript": "NM_001321963.2",
"protein_id": "NP_001308892.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 346,
"cds_start": 749,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Thr250Ile",
"transcript": "NM_001321964.2",
"protein_id": "NP_001308893.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 346,
"cds_start": 749,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Thr250Ile",
"transcript": "NM_001321965.2",
"protein_id": "NP_001308894.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 346,
"cds_start": 749,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Thr230Ile",
"transcript": "NM_001321966.2",
"protein_id": "NP_001308895.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 326,
"cds_start": 689,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Thr110Ile",
"transcript": "ENST00000522789.5",
"protein_id": "ENSP00000428015.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 329,
"cds_end": null,
"cds_length": 621,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000519085.5",
"protein_id": "ENSP00000429158.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 139,
"cds_start": 272,
"cds_end": null,
"cds_length": 420,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Thr376Ile",
"transcript": "XM_006716538.4",
"protein_id": "XP_006716601.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 472,
"cds_start": 1127,
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"cdna_start": 1877,
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"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Ile",
"transcript": "XM_011516950.3",
"protein_id": "XP_011515252.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 452,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Thr336Ile",
"transcript": "XM_017013296.2",
"protein_id": "XP_016868785.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 432,
"cds_start": 1007,
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"cdna_start": 1867,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Thr376Ile",
"transcript": "XM_047421656.1",
"protein_id": "XP_047277612.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 424,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Thr370Ile",
"transcript": "XM_047421657.1",
"protein_id": "XP_047277613.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 418,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Ile",
"transcript": "XM_047421658.1",
"protein_id": "XP_047277614.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 404,
"cds_start": 1067,
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"cdna_start": 2165,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Thr350Ile",
"transcript": "XM_047421659.1",
"protein_id": "XP_047277615.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 398,
"cds_start": 1049,
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"cds_length": 1197,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Thr250Ile",
"transcript": "XM_047421660.1",
"protein_id": "XP_047277616.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 346,
"cds_start": 749,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.378C>T",
"hgvs_p": null,
"transcript": "ENST00000522597.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
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}
],
"message": null
}