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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: 7-31809079-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=31809079&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 31809079,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001191058.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_001191057.4",
"protein_id": "NP_001177986.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396191.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191057.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "ENST00000396191.6",
"protein_id": "ENSP00000379494.1",
"transcript_support_level": 2,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001191057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396191.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "ENST00000396182.6",
"protein_id": "ENSP00000379485.2",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 634,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396182.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "ENST00000396184.7",
"protein_id": "ENSP00000379487.3",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 634,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396184.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2023G>A",
"hgvs_p": "p.Asp675Asn",
"transcript": "NM_001191058.4",
"protein_id": "NP_001177987.2",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 769,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191058.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Asp750Asn",
"transcript": "NM_001322059.2",
"protein_id": "NP_001308988.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 769,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322059.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2023G>A",
"hgvs_p": "p.Asp675Asn",
"transcript": "ENST00000396193.5",
"protein_id": "ENSP00000379496.1",
"transcript_support_level": 2,
"aa_start": 675,
"aa_end": null,
"aa_length": 769,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396193.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_001191059.4",
"protein_id": "NP_001177988.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191059.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_001322055.2",
"protein_id": "NP_001308984.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322055.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "ENST00000321453.12",
"protein_id": "ENSP00000318105.7",
"transcript_support_level": 2,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321453.12"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "ENST00000856457.1",
"protein_id": "ENSP00000526516.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856457.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "ENST00000952474.1",
"protein_id": "ENSP00000622533.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952474.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1816G>A",
"hgvs_p": "p.Asp606Asn",
"transcript": "ENST00000952473.1",
"protein_id": "ENSP00000622532.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 700,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952473.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2023G>A",
"hgvs_p": "p.Asp675Asn",
"transcript": "NM_001322058.2",
"protein_id": "NP_001308987.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 694,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322058.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_001191056.3",
"protein_id": "NP_001177985.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 634,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191056.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_001322056.2",
"protein_id": "NP_001308985.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 634,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322056.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_001322057.2",
"protein_id": "NP_001308986.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 634,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322057.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_005020.5",
"protein_id": "NP_005011.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 634,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005020.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Asp710Asn",
"transcript": "XM_017012264.1",
"protein_id": "XP_016867753.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 804,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012264.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Asp655Asn",
"transcript": "XM_017012265.1",
"protein_id": "XP_016867754.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 749,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012265.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Asp710Asn",
"transcript": "XM_017012266.2",
"protein_id": "XP_016867755.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 729,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012266.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "XM_017012267.2",
"protein_id": "XP_016867756.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 709,
"cds_start": 1843,
"cds_end": null,
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],
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"bayesdelnoaf_score": -0.46,
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{
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"verdict": "Uncertain_significance",
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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
}