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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: 17-78113211-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78113211&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78113211,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000590602.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "NM_001127198.5",
"protein_id": "NP_001120670.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 8387,
"mane_select": "ENST00000590602.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "ENST00000590602.6",
"protein_id": "ENSP00000465261.1",
"transcript_support_level": 2,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 8387,
"mane_select": "NM_001127198.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "ENST00000322914.7",
"protein_id": "ENSP00000313408.2",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "ENST00000392467.7",
"protein_id": "ENSP00000376260.2",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "NM_001321185.1",
"protein_id": "NP_001308114.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "NM_001374596.1",
"protein_id": "NP_001361525.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 7030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "NM_001375353.1",
"protein_id": "NP_001362282.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "NM_001375354.1",
"protein_id": "NP_001362283.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "NM_007267.7",
"protein_id": "NP_009198.4",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "ENST00000589271.6",
"protein_id": "ENSP00000468255.2",
"transcript_support_level": 5,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "ENST00000592063.6",
"protein_id": "ENSP00000466885.2",
"transcript_support_level": 5,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "ENST00000698550.1",
"protein_id": "ENSP00000513793.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2175G>T",
"hgvs_p": "p.Arg725Ser",
"transcript": "NM_001374593.1",
"protein_id": "NP_001361522.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 745,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2175G>T",
"hgvs_p": "p.Arg725Ser",
"transcript": "NM_001374594.1",
"protein_id": "NP_001361523.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 745,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2175G>T",
"hgvs_p": "p.Arg725Ser",
"transcript": "ENST00000698548.1",
"protein_id": "ENSP00000513791.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 745,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Arg434Ser",
"transcript": "ENST00000306591.11",
"protein_id": "ENSP00000306405.6",
"transcript_support_level": 5,
"aa_start": 434,
"aa_end": null,
"aa_length": 454,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "XM_024450556.2",
"protein_id": "XP_024306324.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 3851,
"cdna_end": null,
"cdna_length": 8455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "XM_047435250.1",
"protein_id": "XP_047291206.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "XM_047435251.1",
"protein_id": "XP_047291207.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
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"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 7245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "XM_047435252.1",
"protein_id": "XP_047291208.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
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"cds_start": 2355,
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"cdna_start": 2633,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "XM_047435253.1",
"protein_id": "XP_047291209.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 7120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Arg785Ser",
"transcript": "XM_047435254.1",
"protein_id": "XP_047291210.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 805,
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}