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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: 15-82553517-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82553517&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82553517,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387061.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001365242.1",
"protein_id": "NP_001352171.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684509.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365242.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "ENST00000684509.1",
"protein_id": "ENSP00000507835.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365242.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684509.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Ser398Asn",
"transcript": "ENST00000617958.4",
"protein_id": "ENSP00000478598.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 626,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617958.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260836",
"gene_hgnc_id": null,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Ser263Asn",
"transcript": "ENST00000562833.2",
"protein_id": "ENSP00000454786.2",
"transcript_support_level": 3,
"aa_start": 263,
"aa_end": null,
"aa_length": 584,
"cds_start": 788,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562833.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Ser338Asn",
"transcript": "ENST00000615198.4",
"protein_id": "ENSP00000477715.1",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 561,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615198.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Ser263Asn",
"transcript": "ENST00000618449.4",
"protein_id": "ENSP00000483590.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 491,
"cds_start": 788,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618449.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Ser263Asn",
"transcript": "ENST00000617462.4",
"protein_id": "ENSP00000477557.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 486,
"cds_start": 788,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617462.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001387061.1",
"protein_id": "NP_001373990.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 593,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387061.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001365240.1",
"protein_id": "NP_001352169.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365240.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001365241.1",
"protein_id": "NP_001352170.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365241.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001387062.1",
"protein_id": "NP_001373991.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387062.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001387063.1",
"protein_id": "NP_001373992.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387063.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001387064.1",
"protein_id": "NP_001373993.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387064.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001387065.1",
"protein_id": "NP_001373994.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387065.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001387066.1",
"protein_id": "NP_001373995.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387066.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "NM_001387067.1",
"protein_id": "NP_001373996.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387067.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "ENST00000614918.4",
"protein_id": "ENSP00000481010.1",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614918.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "ENST00000902789.1",
"protein_id": "ENSP00000572848.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902789.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "ENST00000902790.1",
"protein_id": "ENSP00000572849.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902790.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "ENST00000902791.1",
"protein_id": "ENSP00000572850.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902791.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Ser365Asn",
"transcript": "ENST00000902792.1",
"protein_id": "ENSP00000572851.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 588,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902792.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB1",
"gene_hgnc_id": 21744,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Ser338Asn",
"transcript": "NM_001365243.1",
"protein_id": "NP_001352172.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 566,
"cds_start": 1013,
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],
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
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{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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],
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{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000621893.1",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}