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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: 7-99619752-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99619752&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99619752,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145115.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "NM_145115.3",
"protein_id": "NP_660090.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": "ENST00000394152.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "ENST00000394152.7",
"protein_id": "ENSP00000377708.2",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": "NM_145115.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "ENST00000334715.7",
"protein_id": "ENSP00000334800.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.125G>T",
"hgvs_p": "p.Arg42Leu",
"transcript": "ENST00000262941.7",
"protein_id": "ENSP00000262941.7",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 465,
"cds_start": 125,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1652,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "n.475G>T",
"hgvs_p": null,
"transcript": "ENST00000481424.5",
"protein_id": null,
"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": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "NM_001350979.2",
"protein_id": "NP_001337908.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "NM_001350980.2",
"protein_id": "NP_001337909.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "NM_001350984.2",
"protein_id": "NP_001337913.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 286,
"cds_start": 146,
"cds_end": null,
"cds_length": 861,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "NM_001350985.2",
"protein_id": "NP_001337914.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 286,
"cds_start": 146,
"cds_end": null,
"cds_length": 861,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "NM_001350986.2",
"protein_id": "NP_001337915.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 242,
"cds_start": 146,
"cds_end": null,
"cds_length": 729,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "ENST00000431485.2",
"protein_id": "ENSP00000413144.2",
"transcript_support_level": 4,
"aa_start": 49,
"aa_end": null,
"aa_length": 69,
"cds_start": 146,
"cds_end": null,
"cds_length": 210,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_011515905.3",
"protein_id": "XP_011514207.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_011515907.3",
"protein_id": "XP_011514209.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420011.1",
"protein_id": "XP_047275967.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420012.1",
"protein_id": "XP_047275968.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420013.1",
"protein_id": "XP_047275969.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420014.1",
"protein_id": "XP_047275970.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420015.1",
"protein_id": "XP_047275971.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 544,
"cds_start": 146,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_011515909.3",
"protein_id": "XP_011514211.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 286,
"cds_start": 146,
"cds_end": null,
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"cdna_start": 475,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420016.1",
"protein_id": "XP_047275972.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 286,
"cds_start": 146,
"cds_end": null,
"cds_length": 861,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420017.1",
"protein_id": "XP_047275973.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 286,
"cds_start": 146,
"cds_end": null,
"cds_length": 861,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420018.1",
"protein_id": "XP_047275974.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 286,
"cds_start": 146,
"cds_end": null,
"cds_length": 861,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.146G>T",
"hgvs_p": "p.Arg49Leu",
"transcript": "XM_047420019.1",
"protein_id": "XP_047275975.1",
"transcript_support_level": null,
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}