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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: 4-75981465-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=75981465&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 75981465,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018115.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg",
"transcript": "NM_018115.4",
"protein_id": "NP_060585.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 687,
"cds_start": 201,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": "ENST00000356260.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018115.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg",
"transcript": "ENST00000356260.10",
"protein_id": "ENSP00000348596.5",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 687,
"cds_start": 201,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": "NM_018115.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356260.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.*57T>G",
"hgvs_p": null,
"transcript": "ENST00000395710.5",
"protein_id": "ENSP00000379060.1",
"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": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000395710.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.*57T>G",
"hgvs_p": null,
"transcript": "ENST00000395710.5",
"protein_id": "ENSP00000379060.1",
"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": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000395710.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDAD1-AS1",
"gene_hgnc_id": 41106,
"hgvs_c": "n.176+500A>C",
"hgvs_p": null,
"transcript": "ENST00000501239.2",
"protein_id": null,
"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": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000501239.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg",
"transcript": "ENST00000918117.1",
"protein_id": "ENSP00000588176.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 686,
"cds_start": 201,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918117.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg",
"transcript": "ENST00000958683.1",
"protein_id": "ENSP00000628742.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 686,
"cds_start": 201,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958683.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg",
"transcript": "ENST00000860913.1",
"protein_id": "ENSP00000530972.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 663,
"cds_start": 201,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860913.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg",
"transcript": "NM_001288983.2",
"protein_id": "NP_001275912.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 650,
"cds_start": 201,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288983.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg",
"transcript": "ENST00000395711.8",
"protein_id": "ENSP00000379061.4",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 650,
"cds_start": 201,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395711.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.126T>G",
"hgvs_p": "p.Ser42Arg",
"transcript": "XM_005263102.5",
"protein_id": "XP_005263159.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 662,
"cds_start": 126,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263102.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.-91T>G",
"hgvs_p": null,
"transcript": "NM_001288984.2",
"protein_id": "NP_001275913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288984.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.245T>G",
"hgvs_p": null,
"transcript": "ENST00000503411.5",
"protein_id": "ENSP00000422368.1",
"transcript_support_level": 3,
"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": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503411.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.378T>G",
"hgvs_p": null,
"transcript": "ENST00000504975.1",
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000504975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.*57T>G",
"hgvs_p": null,
"transcript": "ENST00000514710.1",
"protein_id": "ENSP00000427443.1",
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.*57T>G",
"hgvs_p": null,
"transcript": "ENST00000514710.1",
"protein_id": "ENSP00000427443.1",
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDAD1-AS1",
"gene_hgnc_id": 41106,
"hgvs_c": "n.176+500A>C",
"hgvs_p": null,
"transcript": "NR_125906.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125906.1"
}
],
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84234e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6934108734130859,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.9516,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.072,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018115.4",
"gene_symbol": "SDAD1",
"hgnc_id": 25537,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Ser67Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000501239.2",
"gene_symbol": "SDAD1-AS1",
"hgnc_id": 41106,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.176+500A>C",
"hgvs_p": null
}
],
"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
}