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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: 3-134603676-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134603676&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KY",
"hgnc_id": 26576,
"hgvs_c": "c.1889G>A",
"hgvs_p": "p.Ser630Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_178554.6",
"verdict": "Benign"
},
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288700",
"hgnc_id": null,
"hgvs_c": "n.355C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -3,
"transcript": "ENST00000830983.1",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CEP63",
"hgnc_id": 25815,
"hgvs_c": "n.1639+5692C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "XR_002959589.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 92,
"alphamissense_prediction": null,
"alphamissense_score": 0.0672,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05337432026863098,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 661,
"aa_ref": "S",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5704,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_178554.6",
"gene_hgnc_id": 26576,
"gene_symbol": "KY",
"hgvs_c": "c.1889G>A",
"hgvs_p": "p.Ser630Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000423778.7",
"protein_coding": true,
"protein_id": "NP_848649.3",
"strand": false,
"transcript": "NM_178554.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 661,
"aa_ref": "S",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5704,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000423778.7",
"gene_hgnc_id": 26576,
"gene_symbol": "KY",
"hgvs_c": "c.1889G>A",
"hgvs_p": "p.Ser630Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_178554.6",
"protein_coding": true,
"protein_id": "ENSP00000397598.2",
"strand": false,
"transcript": "ENST00000423778.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000503669.1",
"gene_hgnc_id": 26576,
"gene_symbol": "KY",
"hgvs_c": "c.*771G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426777.1",
"strand": false,
"transcript": "ENST00000503669.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 645,
"aa_ref": "S",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5656,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350859.2",
"gene_hgnc_id": 26576,
"gene_symbol": "KY",
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Ser614Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337788.1",
"strand": false,
"transcript": "NM_001350859.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 643,
"aa_ref": "S",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5674,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000864999.1",
"gene_hgnc_id": 26576,
"gene_symbol": "KY",
"hgvs_c": "c.1835G>A",
"hgvs_p": "p.Ser612Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535058.1",
"strand": false,
"transcript": "ENST00000864999.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5637,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001366276.1",
"gene_hgnc_id": 26576,
"gene_symbol": "KY",
"hgvs_c": "c.1826G>A",
"hgvs_p": "p.Ser609Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353205.1",
"strand": false,
"transcript": "NM_001366276.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000508956.5",
"gene_hgnc_id": 26576,
"gene_symbol": "KY",
"hgvs_c": "c.1826G>A",
"hgvs_p": "p.Ser609Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421297.1",
"strand": false,
"transcript": "ENST00000508956.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 608,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000830983.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.355C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000830983.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467708.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.106+5692C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467708.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000472904.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.1874+5692C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000472904.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683452.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.1687-11508C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683452.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000686482.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.348+5692C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000686482.3",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000830980.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.273+5692C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000830980.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000830981.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.326+5692C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000830981.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000830982.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288700",
"hgvs_c": "n.284+5692C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000830982.1",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9415,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_002959589.2",
"gene_hgnc_id": 25815,
"gene_symbol": "CEP63",
"hgvs_c": "n.1639+5692C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959589.2",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 3787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007095729.1",
"gene_hgnc_id": 25815,
"gene_symbol": "CEP63",
"hgvs_c": "n.1672+5692C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "XR_007095729.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007095730.1",
"gene_hgnc_id": 25815,
"gene_symbol": "CEP63",
"hgvs_c": "n.1672+5692C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007095730.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007095731.1",
"gene_hgnc_id": 25815,
"gene_symbol": "CEP63",
"hgvs_c": "n.1672+5692C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007095731.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9555,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007095732.1",
"gene_hgnc_id": 25815,
"gene_symbol": "CEP63",
"hgvs_c": "n.1777+5692C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007095732.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6882,
"cdna_start": null,
"cds_end": null,
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}