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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: 7-144765897-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=144765897&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 144765897,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000360057.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "NM_022445.4",
"protein_id": "NP_071890.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 243,
"cds_start": 98,
"cds_end": null,
"cds_length": 732,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": "ENST00000360057.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "ENST00000360057.7",
"protein_id": "ENSP00000353165.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 243,
"cds_start": 98,
"cds_end": null,
"cds_length": 732,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": "NM_022445.4",
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.98G>C",
"hgvs_p": null,
"transcript": "ENST00000378098.8",
"protein_id": "ENSP00000367338.4",
"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": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "NM_001350879.1",
"protein_id": "NP_001337808.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 243,
"cds_start": 98,
"cds_end": null,
"cds_length": 732,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "NM_001350881.1",
"protein_id": "NP_001337810.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 241,
"cds_start": 98,
"cds_end": null,
"cds_length": 726,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "NM_001042482.2",
"protein_id": "NP_001035947.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 194,
"cds_start": 98,
"cds_end": null,
"cds_length": 585,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "NM_001350880.1",
"protein_id": "NP_001337809.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 194,
"cds_start": 98,
"cds_end": null,
"cds_length": 585,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "ENST00000378099.7",
"protein_id": "ENSP00000367339.3",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 194,
"cds_start": 98,
"cds_end": null,
"cds_length": 585,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "ENST00000552881.1",
"protein_id": "ENSP00000448655.1",
"transcript_support_level": 4,
"aa_start": 33,
"aa_end": null,
"aa_length": 165,
"cds_start": 98,
"cds_end": null,
"cds_length": 500,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_011516031.2",
"protein_id": "XP_011514333.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 269,
"cds_start": 98,
"cds_end": null,
"cds_length": 810,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_011516032.3",
"protein_id": "XP_011514334.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 269,
"cds_start": 98,
"cds_end": null,
"cds_length": 810,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_011516033.3",
"protein_id": "XP_011514335.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 269,
"cds_start": 98,
"cds_end": null,
"cds_length": 810,
"cdna_start": 204,
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"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_011516034.3",
"protein_id": "XP_011514336.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 269,
"cds_start": 98,
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"cds_length": 810,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_017011969.2",
"protein_id": "XP_016867458.1",
"transcript_support_level": null,
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"cds_start": 98,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_017011972.2",
"protein_id": "XP_016867461.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 246,
"cds_start": 98,
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"cdna_start": 201,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_005249970.2",
"protein_id": "XP_005250027.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
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"cds_start": 98,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_047420192.1",
"protein_id": "XP_047276148.1",
"transcript_support_level": null,
"aa_start": 33,
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"aa_length": 243,
"cds_start": 98,
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"cdna_start": 360,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_011516040.3",
"protein_id": "XP_011514342.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 242,
"cds_start": 98,
"cds_end": null,
"cds_length": 729,
"cdna_start": 201,
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"cdna_length": 9107,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_011516043.2",
"protein_id": "XP_011514345.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_047420194.1",
"protein_id": "XP_047276150.1",
"transcript_support_level": null,
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"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_047420195.1",
"protein_id": "XP_047276151.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.98G>C",
"hgvs_p": "p.Arg33Pro",
"transcript": "XM_011516046.2",
"protein_id": "XP_011514348.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 147,
"cds_start": 98,
"cds_end": null,
"cds_length": 444,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 653,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.142G>C",
"hgvs_p": null,
"transcript": "NR_146934.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
],
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}