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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: X-101883920-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101883920&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101883920,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001394560.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Gln560Glu",
"transcript": "NM_001394560.1",
"protein_id": "NP_001381489.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 695,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651725.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394560.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Gln560Glu",
"transcript": "ENST00000651725.2",
"protein_id": "ENSP00000498446.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 695,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394560.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651725.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1507C>G",
"hgvs_p": "p.Gln503Glu",
"transcript": "ENST00000372782.4",
"protein_id": "ENSP00000361868.3",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 638,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372782.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1747C>G",
"hgvs_p": "p.Gln583Glu",
"transcript": "ENST00000878190.1",
"protein_id": "ENSP00000548249.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 718,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878190.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1744C>G",
"hgvs_p": "p.Gln582Glu",
"transcript": "ENST00000878189.1",
"protein_id": "ENSP00000548248.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 717,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878189.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1690C>G",
"hgvs_p": "p.Gln564Glu",
"transcript": "ENST00000966029.1",
"protein_id": "ENSP00000636088.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 699,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966029.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1507C>G",
"hgvs_p": "p.Gln503Glu",
"transcript": "NM_001011657.4",
"protein_id": "NP_001011657.2",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 638,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011657.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1507C>G",
"hgvs_p": "p.Gln503Glu",
"transcript": "ENST00000540921.5",
"protein_id": "ENSP00000437529.1",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 638,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540921.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Gln332Glu",
"transcript": "NM_001282400.2",
"protein_id": "NP_001269329.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 467,
"cds_start": 994,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282400.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Gln332Glu",
"transcript": "NM_001282401.2",
"protein_id": "NP_001269330.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 467,
"cds_start": 994,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282401.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1747C>G",
"hgvs_p": "p.Gln583Glu",
"transcript": "XM_005262212.5",
"protein_id": "XP_005262269.2",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 718,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262212.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1744C>G",
"hgvs_p": "p.Gln582Glu",
"transcript": "XM_005262213.5",
"protein_id": "XP_005262270.2",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 717,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262213.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Gln463Glu",
"transcript": "XM_005262216.5",
"protein_id": "XP_005262273.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 598,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262216.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.1384C>G",
"hgvs_p": "p.Gln462Glu",
"transcript": "XM_017029903.2",
"protein_id": "XP_016885392.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 597,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029903.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Gln332Glu",
"transcript": "XM_006724711.4",
"protein_id": "XP_006724774.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 467,
"cds_start": 994,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724711.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Gln332Glu",
"transcript": "XM_047442574.1",
"protein_id": "XP_047298530.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 467,
"cds_start": 994,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442574.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Gln332Glu",
"transcript": "XM_047442575.1",
"protein_id": "XP_047298531.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 467,
"cds_start": 994,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442575.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Gln332Glu",
"transcript": "XM_047442576.1",
"protein_id": "XP_047298532.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 467,
"cds_start": 994,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "n.2325C>G",
"hgvs_p": null,
"transcript": "ENST00000458570.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000458570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "n.2374C>G",
"hgvs_p": null,
"transcript": "ENST00000488347.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488347.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"hgvs_c": "n.4492C>G",
"hgvs_p": null,
"transcript": "ENST00000494068.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494068.1"
}
],
"gene_symbol": "ZMAT1",
"gene_hgnc_id": 29377,
"dbsnp": "rs768283759",
"frequency_reference_population": 0.000004556473,
"hom_count_reference_population": 2,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000455647,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09707897901535034,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.099,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001394560.1",
"gene_symbol": "ZMAT1",
"hgnc_id": 29377,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Gln560Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}