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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: 4-38014774-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=38014774&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 38014774,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000698857.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "NM_001396959.1",
"protein_id": "NP_001383888.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1262,
"cds_start": 683,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": "ENST00000698857.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "ENST00000698857.1",
"protein_id": "ENSP00000513987.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1262,
"cds_start": 683,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": "NM_001396959.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "ENST00000261439.9",
"protein_id": "ENSP00000261439.4",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 1168,
"cds_start": 683,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "NM_015173.4",
"protein_id": "NP_055988.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1168,
"cds_start": 683,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "NM_001253912.2",
"protein_id": "NP_001240841.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1159,
"cds_start": 683,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 5676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "ENST00000508802.5",
"protein_id": "ENSP00000423651.1",
"transcript_support_level": 2,
"aa_start": 228,
"aa_end": null,
"aa_length": 1159,
"cds_start": 683,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.296T>C",
"hgvs_p": "p.Val99Ala",
"transcript": "ENST00000446803.6",
"protein_id": "ENSP00000396877.2",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 598,
"cds_start": 296,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_011513659.3",
"protein_id": "XP_011511961.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1295,
"cds_start": 683,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 6084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_011513660.4",
"protein_id": "XP_011511962.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1282,
"cds_start": 683,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 1041,
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"cdna_length": 6045,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_005262646.4",
"protein_id": "XP_005262703.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1275,
"cds_start": 683,
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"cds_length": 3828,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_011513662.4",
"protein_id": "XP_011511964.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1255,
"cds_start": 683,
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"cdna_start": 1041,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_011513663.4",
"protein_id": "XP_011511965.1",
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"aa_start": 228,
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"aa_length": 1242,
"cds_start": 683,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_011513664.4",
"protein_id": "XP_011511966.1",
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},
{
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],
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"gene_symbol": "TBC1D1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_017007918.3",
"protein_id": "XP_016863407.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.683T>C",
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},
{
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"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_047449889.1",
"protein_id": "XP_047305845.1",
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},
{
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"strand": true,
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],
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Val228Ala",
"transcript": "XM_011513665.4",
"protein_id": "XP_011511967.1",
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},
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],
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},
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"intron_rank": null,
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"gene_symbol": "TBC1D1",
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"transcript": "XM_017007920.3",
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},
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],
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"gene_symbol": "TBC1D1",
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"hgvs_c": "c.683T>C",
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"transcript": "XM_047449890.1",
"protein_id": "XP_047305846.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D1",
"gene_hgnc_id": 11578,
"hgvs_c": "c.296T>C",
"hgvs_p": "p.Val99Ala",
"transcript": "XM_047449891.1",
"protein_id": "XP_047305847.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 1166,
"cds_start": 296,
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"cdna_start": 504,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "TBC1D1",
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}