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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: 14-88391369-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88391369&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 88391369,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_018418.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-12T>A",
"hgvs_p": null,
"transcript": "NM_018418.5",
"protein_id": "NP_060888.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": "ENST00000393545.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-12T>A",
"hgvs_p": null,
"transcript": "ENST00000393545.9",
"protein_id": "ENSP00000377176.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": "NM_018418.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-12T>A",
"hgvs_p": null,
"transcript": "ENST00000356583.9",
"protein_id": "ENSP00000348991.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-12T>A",
"hgvs_p": null,
"transcript": "ENST00000556553.5",
"protein_id": "ENSP00000451128.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-12T>A",
"hgvs_p": null,
"transcript": "NM_001040428.4",
"protein_id": "NP_001035518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-12T>A",
"hgvs_p": null,
"transcript": "ENST00000045347.11",
"protein_id": "ENSP00000045347.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-12T>A",
"hgvs_p": null,
"transcript": "ENST00000553885.5",
"protein_id": "ENSP00000450606.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-4787T>A",
"hgvs_p": null,
"transcript": "ENST00000555401.5",
"protein_id": "ENSP00000452435.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.148-12T>A",
"hgvs_p": null,
"transcript": "ENST00000553626.5",
"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": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.20-12T>A",
"hgvs_p": null,
"transcript": "ENST00000553908.5",
"protein_id": "ENSP00000452546.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.163-12T>A",
"hgvs_p": null,
"transcript": "ENST00000554102.5",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "SPATA7",
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"hgvs_c": "n.*73-12T>A",
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"transcript": "ENST00000554168.5",
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},
{
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],
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"hgvs_c": "n.*73-12T>A",
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},
{
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],
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},
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],
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},
{
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],
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"gene_symbol": "SPATA7",
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"hgvs_c": "n.20-12T>A",
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"transcript": "ENST00000555715.5",
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},
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],
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},
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],
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"gene_symbol": "SPATA7",
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"hgvs_c": "n.20-12T>A",
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"transcript": "ENST00000557248.5",
"protein_id": "ENSP00000451690.1",
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},
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],
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"gene_symbol": "SPATA7",
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"hgvs_c": "n.139-12T>A",
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],
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],
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},
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],
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"gene_symbol": "SPATA7",
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"hgvs_c": "c.20-12T>A",
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"transcript": "XM_005267852.3",
"protein_id": "XP_005267909.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.20-4787T>A",
"hgvs_p": null,
"transcript": "XM_011536952.2",
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},
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"consequences": [
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}
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}