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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: 19-37635000-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37635000&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 37635000,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014898.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "NM_001320669.3",
"protein_id": "NP_001307598.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684514.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320669.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "ENST00000684514.1",
"protein_id": "ENSP00000508019.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001320669.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684514.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "ENST00000351218.6",
"protein_id": "ENSP00000343581.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351218.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "ENST00000514101.6",
"protein_id": "ENSP00000422930.2",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514101.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "NM_001320666.3",
"protein_id": "NP_001307595.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320666.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "NM_001320667.3",
"protein_id": "NP_001307596.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320667.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "NM_001320668.3",
"protein_id": "NP_001307597.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320668.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "NM_014898.4",
"protein_id": "NP_055713.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014898.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "ENST00000858107.1",
"protein_id": "ENSP00000528166.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858107.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "ENST00000858108.1",
"protein_id": "ENSP00000528167.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858108.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu",
"transcript": "ENST00000937930.1",
"protein_id": "ENSP00000607989.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 519,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937930.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "NM_001320670.3",
"protein_id": "NP_001307599.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320670.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "NM_001320671.3",
"protein_id": "NP_001307600.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320671.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "ENST00000858104.1",
"protein_id": "ENSP00000528163.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858104.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "ENST00000858105.1",
"protein_id": "ENSP00000528164.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858105.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "ENST00000858106.1",
"protein_id": "ENSP00000528165.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858106.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "ENST00000858109.1",
"protein_id": "ENSP00000528168.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858109.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "ENST00000937928.1",
"protein_id": "ENSP00000607987.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937928.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "ENST00000937929.1",
"protein_id": "ENSP00000607988.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 518,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937929.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.1517G>T",
"hgvs_p": "p.Arg506Leu",
"transcript": "ENST00000943956.1",
"protein_id": "ENSP00000614015.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 511,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"hgvs_c": "c.232+8265G>T",
"hgvs_p": null,
"transcript": "ENST00000589018.5",
"protein_id": "ENSP00000467387.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589018.5"
}
],
"gene_symbol": "ZFP30",
"gene_hgnc_id": 29555,
"dbsnp": "rs144294637",
"frequency_reference_population": 0.0000014298461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142985,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24829649925231934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.3584,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.054,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014898.4",
"gene_symbol": "ZFP30",
"hgnc_id": 29555,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1541G>T",
"hgvs_p": "p.Arg514Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}