← Back to variant description
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: 3-48627947-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48627947&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48627947,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000395550.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Met631Thr",
"transcript": "NM_022911.3",
"protein_id": "NP_075062.2",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 759,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "ENST00000395550.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Met631Thr",
"transcript": "ENST00000395550.7",
"protein_id": "ENSP00000378920.2",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 759,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "NM_022911.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Met631Thr",
"transcript": "ENST00000420764.6",
"protein_id": "ENSP00000404684.2",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 758,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1829T>C",
"hgvs_p": "p.Met610Thr",
"transcript": "ENST00000358747.10",
"protein_id": "ENSP00000351597.6",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 738,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.2080T>C",
"hgvs_p": null,
"transcript": "ENST00000480524.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1819+468T>C",
"hgvs_p": null,
"transcript": "ENST00000383733.7",
"protein_id": "ENSP00000373239.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.*1497+468T>C",
"hgvs_p": null,
"transcript": "ENST00000307364.10",
"protein_id": "ENSP00000307089.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Met631Thr",
"transcript": "NM_134263.3",
"protein_id": "NP_599025.2",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 758,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1829T>C",
"hgvs_p": "p.Met610Thr",
"transcript": "NM_001040454.1",
"protein_id": "NP_001035544.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 738,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1784T>C",
"hgvs_p": "p.Met595Thr",
"transcript": "NM_001281732.2",
"protein_id": "NP_001268661.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 723,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1784T>C",
"hgvs_p": "p.Met595Thr",
"transcript": "ENST00000455886.6",
"protein_id": "ENSP00000401066.2",
"transcript_support_level": 2,
"aa_start": 595,
"aa_end": null,
"aa_length": 723,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1571T>C",
"hgvs_p": "p.Met524Thr",
"transcript": "NM_001281733.2",
"protein_id": "NP_001268662.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 651,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1571T>C",
"hgvs_p": "p.Met524Thr",
"transcript": "ENST00000337000.12",
"protein_id": "ENSP00000337648.8",
"transcript_support_level": 2,
"aa_start": 524,
"aa_end": null,
"aa_length": 651,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.407T>C",
"hgvs_p": null,
"transcript": "ENST00000462009.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.546T>C",
"hgvs_p": null,
"transcript": "ENST00000466257.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.4143T>C",
"hgvs_p": null,
"transcript": "ENST00000489483.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1819+468T>C",
"hgvs_p": null,
"transcript": "NM_134426.3",
"protein_id": "NP_602298.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300190",
"gene_hgnc_id": null,
"hgvs_c": "n.259-517A>G",
"hgvs_p": null,
"transcript": "ENST00000769883.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.*222T>C",
"hgvs_p": null,
"transcript": "ENST00000469693.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"dbsnp": "rs753810423",
"frequency_reference_population": 0.00001135866,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000767873,
"gnomad_genomes_af": 0.0000460024,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0823589563369751,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.0835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.203,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.00000730739014186626,
"dbscsnv_ada_prediction": "Benign",
"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": "ENST00000395550.7",
"gene_symbol": "SLC26A6",
"hgnc_id": 14472,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Met631Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000769883.1",
"gene_symbol": "ENSG00000300190",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259-517A>G",
"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
}