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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: 1-229530290-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=229530290&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 229530290,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_012089.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Pro518Pro",
"transcript": "NM_012089.3",
"protein_id": "NP_036221.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 738,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344517.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012089.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Pro518Pro",
"transcript": "ENST00000344517.5",
"protein_id": "ENSP00000355637.3",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 738,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012089.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344517.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1605G>A",
"hgvs_p": "p.Pro535Pro",
"transcript": "ENST00000946247.1",
"protein_id": "ENSP00000616306.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 755,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946247.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Pro518Pro",
"transcript": "ENST00000946244.1",
"protein_id": "ENSP00000616303.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 716,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946244.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1482G>A",
"hgvs_p": "p.Pro494Pro",
"transcript": "ENST00000946246.1",
"protein_id": "ENSP00000616305.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 714,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946246.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1458G>A",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000946248.1",
"protein_id": "ENSP00000616307.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 706,
"cds_start": 1458,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946248.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "ENST00000911720.1",
"protein_id": "ENSP00000581779.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 693,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911720.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Pro451Pro",
"transcript": "ENST00000946245.1",
"protein_id": "ENSP00000616304.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 671,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946245.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Pro518Pro",
"transcript": "ENST00000946249.1",
"protein_id": "ENSP00000616308.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 651,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946249.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Pro339Pro",
"transcript": "XM_011544135.4",
"protein_id": "XP_011542437.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 559,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544135.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Pro339Pro",
"transcript": "XM_047416589.1",
"protein_id": "XP_047272545.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 559,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416589.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Pro222Pro",
"transcript": "XM_011544136.2",
"protein_id": "XP_011542438.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 442,
"cds_start": 666,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544136.2"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.1340-8655G>A",
"hgvs_p": null,
"transcript": "ENST00000946250.1",
"protein_id": "ENSP00000616309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946250.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "n.386G>A",
"hgvs_p": null,
"transcript": "ENST00000486755.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000486755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"hgvs_c": "c.*121G>A",
"hgvs_p": null,
"transcript": "XM_047416590.1",
"protein_id": "XP_047272546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416590.1"
}
],
"gene_symbol": "ABCB10",
"gene_hgnc_id": 41,
"dbsnp": "rs140426197",
"frequency_reference_population": 0.0048332135,
"hom_count_reference_population": 31,
"allele_count_reference_population": 7801,
"gnomad_exomes_af": 0.00502568,
"gnomad_genomes_af": 0.00298394,
"gnomad_exomes_ac": 7347,
"gnomad_genomes_ac": 454,
"gnomad_exomes_homalt": 30,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.519,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012089.3",
"gene_symbol": "ABCB10",
"hgnc_id": 41,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Pro518Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}