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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: 3-58884595-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58884595&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58884595,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394063.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "NM_001394063.1",
"protein_id": "NP_001380992.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 814,
"cds_start": 665,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000482387.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394063.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "ENST00000482387.7",
"protein_id": "ENSP00000417122.2",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 814,
"cds_start": 665,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482387.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "n.*84G>A",
"hgvs_p": null,
"transcript": "ENST00000468415.6",
"protein_id": "ENSP00000419142.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468415.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "n.*84G>A",
"hgvs_p": null,
"transcript": "ENST00000468415.6",
"protein_id": "ENSP00000419142.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468415.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "ENST00000938702.1",
"protein_id": "ENSP00000608761.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 813,
"cds_start": 665,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938702.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "ENST00000938701.1",
"protein_id": "ENSP00000608760.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 687,
"cds_start": 665,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "NM_001351531.2",
"protein_id": "NP_001338460.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 609,
"cds_start": 50,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351531.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "NM_198463.4",
"protein_id": "NP_940865.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 563,
"cds_start": 290,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198463.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "ENST00000295966.11",
"protein_id": "ENSP00000295966.7",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 563,
"cds_start": 290,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295966.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000472469.5",
"protein_id": "ENSP00000417271.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 334,
"cds_start": 50,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472469.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "NM_001351533.2",
"protein_id": "NP_001338462.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 244,
"cds_start": 665,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351533.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "XM_005264929.3",
"protein_id": "XP_005264986.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 801,
"cds_start": 665,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264929.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "XM_024453385.2",
"protein_id": "XP_024309153.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 739,
"cds_start": 665,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453385.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "XM_011533455.4",
"protein_id": "XP_011531757.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 726,
"cds_start": 665,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533455.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "XM_011533456.3",
"protein_id": "XP_011531758.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 689,
"cds_start": 290,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533456.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "XM_011533457.2",
"protein_id": "XP_011531759.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 689,
"cds_start": 290,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533457.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "XM_011533458.3",
"protein_id": "XP_011531760.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 689,
"cds_start": 290,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533458.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "XM_011533459.3",
"protein_id": "XP_011531761.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 688,
"cds_start": 665,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533459.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "XM_011533460.3",
"protein_id": "XP_011531762.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 635,
"cds_start": 128,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533460.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "XM_024453386.2",
"protein_id": "XP_024309154.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 609,
"cds_start": 50,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453386.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "XM_047447658.1",
"protein_id": "XP_047303614.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 609,
"cds_start": 50,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP20DC",
"gene_hgnc_id": 24763,
"hgvs_c": "c.-277G>A",
"hgvs_p": null,
"transcript": "NM_001351532.2",
"protein_id": "NP_001338461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001394063.1",
"gene_symbol": "CFAP20DC",
"hgnc_id": 24763,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000482372.1",
"gene_symbol": "CFAP20DC-AS1",
"hgnc_id": 41063,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.105+60020C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}