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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: 2-74239467-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74239467&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74239467,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000394019.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly",
"transcript": "NM_133478.3",
"protein_id": "NP_597812.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": "ENST00000394019.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly",
"transcript": "ENST00000394019.7",
"protein_id": "ENSP00000377587.2",
"transcript_support_level": 5,
"aa_start": 729,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": "NM_133478.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly",
"transcript": "ENST00000377632.5",
"protein_id": "ENSP00000366859.1",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.1995C>T",
"hgvs_p": "p.Gly665Gly",
"transcript": "ENST00000358683.8",
"protein_id": "ENSP00000351513.4",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1995,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264324",
"gene_hgnc_id": null,
"hgvs_c": "n.*2775C>T",
"hgvs_p": null,
"transcript": "ENST00000451608.2",
"protein_id": "ENSP00000416453.2",
"transcript_support_level": 5,
"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": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264324",
"gene_hgnc_id": null,
"hgvs_c": "n.*2775C>T",
"hgvs_p": null,
"transcript": "ENST00000451608.2",
"protein_id": "ENSP00000416453.2",
"transcript_support_level": 5,
"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": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly",
"transcript": "NM_021196.3",
"protein_id": "NP_067019.3",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly",
"transcript": "ENST00000346834.8",
"protein_id": "ENSP00000251768.7",
"transcript_support_level": 5,
"aa_start": 729,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly",
"transcript": "ENST00000377634.8",
"protein_id": "ENSP00000366861.4",
"transcript_support_level": 5,
"aa_start": 729,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly",
"transcript": "ENST00000423644.5",
"protein_id": "ENSP00000395804.2",
"transcript_support_level": 5,
"aa_start": 729,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2187,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 6185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "c.1839C>T",
"hgvs_p": "p.Gly613Gly",
"transcript": "NM_001386136.1",
"protein_id": "NP_001373065.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 1005,
"cds_start": 1839,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 5784,
"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": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "n.2187C>T",
"hgvs_p": null,
"transcript": "ENST00000425249.6",
"protein_id": "ENSP00000405678.2",
"transcript_support_level": 5,
"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": 3304,
"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": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"hgvs_c": "n.2992C>T",
"hgvs_p": null,
"transcript": "ENST00000483195.5",
"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": 6576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC4A5",
"gene_hgnc_id": 18168,
"dbsnp": "rs4853018",
"frequency_reference_population": 0.39076942,
"hom_count_reference_population": 131273,
"allele_count_reference_population": 630569,
"gnomad_exomes_af": 0.395807,
"gnomad_genomes_af": 0.342352,
"gnomad_exomes_ac": 578511,
"gnomad_genomes_ac": 52058,
"gnomad_exomes_homalt": 121005,
"gnomad_genomes_homalt": 10268,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.058,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000394019.7",
"gene_symbol": "SLC4A5",
"hgnc_id": 18168,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Gly729Gly"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000451608.2",
"gene_symbol": "ENSG00000264324",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2775C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}