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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: 19-41847855-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41847855&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41847855,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001040283.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "NM_001040283.3",
"protein_id": "NP_001035373.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 367,
"cds_start": 344,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": "ENST00000269945.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040283.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "ENST00000269945.8",
"protein_id": "ENSP00000269945.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 367,
"cds_start": 344,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": "NM_001040283.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269945.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "ENST00000596827.5",
"protein_id": "ENSP00000469525.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 418,
"cds_start": 344,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596827.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "ENST00000600017.5",
"protein_id": "ENSP00000472488.1",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 164,
"cds_start": 344,
"cds_end": null,
"cds_length": 497,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600017.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "ENST00000596660.1",
"protein_id": "ENSP00000470553.1",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 160,
"cds_start": 344,
"cds_end": null,
"cds_length": 485,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596660.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "ENST00000596258.5",
"protein_id": "ENSP00000472215.1",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 133,
"cds_start": 344,
"cds_end": null,
"cds_length": 404,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596258.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Lys120Arg",
"transcript": "XM_017027123.2",
"protein_id": "XP_016882612.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 423,
"cds_start": 359,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027123.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "XM_017027124.3",
"protein_id": "XP_016882613.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 421,
"cds_start": 353,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027124.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "XM_017027125.2",
"protein_id": "XP_016882614.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 418,
"cds_start": 344,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027125.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "XM_017027126.3",
"protein_id": "XP_016882615.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 418,
"cds_start": 344,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027126.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "XM_017027127.3",
"protein_id": "XP_016882616.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 418,
"cds_start": 344,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027127.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg",
"transcript": "XM_017027128.2",
"protein_id": "XP_016882617.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 418,
"cds_start": 344,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027128.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Lys120Arg",
"transcript": "XM_017027129.2",
"protein_id": "XP_016882618.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 372,
"cds_start": 359,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027129.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Lys120Arg",
"transcript": "XM_011527216.3",
"protein_id": "XP_011525518.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 228,
"cds_start": 359,
"cds_end": null,
"cds_length": 687,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527216.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "n.344A>G",
"hgvs_p": null,
"transcript": "ENST00000601660.5",
"protein_id": "ENSP00000472159.1",
"transcript_support_level": 2,
"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": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601660.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"hgvs_c": "n.399A>G",
"hgvs_p": null,
"transcript": "ENST00000602098.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000602098.1"
}
],
"gene_symbol": "DMRTC2",
"gene_hgnc_id": 13911,
"dbsnp": "rs201503394",
"frequency_reference_population": 0.0001666283,
"hom_count_reference_population": 0,
"allele_count_reference_population": 265,
"gnomad_exomes_af": 0.000174529,
"gnomad_genomes_af": 0.0000919782,
"gnomad_exomes_ac": 251,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05693498253822327,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.082,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.498,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001040283.3",
"gene_symbol": "DMRTC2",
"hgnc_id": 13911,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Lys115Arg"
}
],
"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
}