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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: 20-17949101-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17949101&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17949101,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014426.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "NM_014426.4",
"protein_id": "NP_055241.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 404,
"cds_start": 794,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377759.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014426.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000377759.9",
"protein_id": "ENSP00000366988.3",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 404,
"cds_start": 794,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014426.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377759.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000377768.7",
"protein_id": "ENSP00000366998.3",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 404,
"cds_start": 794,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377768.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "n.844A>G",
"hgvs_p": null,
"transcript": "ENST00000490175.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490175.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "NM_152227.3",
"protein_id": "NP_689413.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 404,
"cds_start": 794,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152227.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000925824.1",
"protein_id": "ENSP00000595883.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 404,
"cds_start": 794,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925824.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys",
"transcript": "ENST00000895746.1",
"protein_id": "ENSP00000565805.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 397,
"cds_start": 794,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895746.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Tyr193Cys",
"transcript": "ENST00000895748.1",
"protein_id": "ENSP00000565807.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 332,
"cds_start": 578,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895748.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.548A>G",
"hgvs_p": "p.Tyr183Cys",
"transcript": "ENST00000895749.1",
"protein_id": "ENSP00000565808.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 322,
"cds_start": 548,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895749.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.479A>G",
"hgvs_p": "p.Tyr160Cys",
"transcript": "NM_001282454.2",
"protein_id": "NP_001269383.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 299,
"cds_start": 479,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282454.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.437A>G",
"hgvs_p": "p.Tyr146Cys",
"transcript": "ENST00000895747.1",
"protein_id": "ENSP00000565806.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 285,
"cds_start": 437,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895747.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Tyr228Cys",
"transcript": "ENST00000431277.5",
"protein_id": "ENSP00000404448.1",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 268,
"cds_start": 683,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431277.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Tyr111Cys",
"transcript": "ENST00000970421.1",
"protein_id": "ENSP00000640480.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 250,
"cds_start": 332,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970421.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.Tyr230Cys",
"transcript": "ENST00000419004.2",
"protein_id": "ENSP00000406731.2",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 229,
"cds_start": 689,
"cds_end": null,
"cds_length": 692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419004.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Tyr74Cys",
"transcript": "ENST00000463050.5",
"protein_id": "ENSP00000479021.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 169,
"cds_start": 221,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463050.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "n.310A>G",
"hgvs_p": null,
"transcript": "ENST00000476648.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476648.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"hgvs_c": "n.1906A>G",
"hgvs_p": null,
"transcript": "ENST00000483485.5",
"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": "ENST00000483485.5"
}
],
"gene_symbol": "SNX5",
"gene_hgnc_id": 14969,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40214306116104126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.1765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.567,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014426.4",
"gene_symbol": "SNX5",
"hgnc_id": 14969,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Tyr265Cys"
}
],
"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
}