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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: 17-19377693-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19377693&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19377693,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001368769.2",
"consequences": [
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.-129+166T>A",
"hgvs_p": null,
"transcript": "ENST00000674596.1",
"protein_id": "ENSP00000501877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1676,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.-298+166T>A",
"hgvs_p": null,
"transcript": "ENST00000642870.2",
"protein_id": "ENSP00000496409.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": -4,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 744,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.-298+166T>A",
"hgvs_p": null,
"transcript": "ENST00000477478.7",
"protein_id": "ENSP00000460939.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1353,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.-298+166T>A",
"hgvs_p": null,
"transcript": "NM_001368769.2",
"protein_id": "NP_001355698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": -4,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3518,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.-298+166T>A",
"hgvs_p": null,
"transcript": "ENST00000582857.2",
"protein_id": "ENSP00000463165.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": -4,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 928,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "n.39+166T>A",
"hgvs_p": null,
"transcript": "ENST00000468679.4",
"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": 407,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "n.290+166T>A",
"hgvs_p": null,
"transcript": "ENST00000476298.2",
"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": 798,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "n.32+166T>A",
"hgvs_p": null,
"transcript": "ENST00000487415.6",
"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": 295,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "n.335+166T>A",
"hgvs_p": null,
"transcript": "ENST00000645021.1",
"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": 534,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.-96+166T>A",
"hgvs_p": null,
"transcript": "XM_047435750.1",
"protein_id": "XP_047291706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
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"cds_length": 642,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"hgvs_c": "c.-1456+166T>A",
"hgvs_p": null,
"transcript": "XM_047435751.1",
"protein_id": "XP_047291707.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "B9D1",
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"hgvs_c": "c.-1456+166T>A",
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"transcript": "XM_047435752.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "B9D1",
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"hgvs_c": "c.-1456+166T>A",
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"transcript": "XM_047435753.1",
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},
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],
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"gene_symbol": "B9D1",
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"hgvs_c": "c.-1456+166T>A",
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"transcript": "XM_047435754.1",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "B9D1",
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"hgvs_c": "c.-1456+166T>A",
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"transcript": "XM_005256610.3",
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},
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],
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"gene_symbol": "B9D1",
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"hgvs_c": "c.-383+166T>A",
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"transcript": "XM_047435756.1",
"protein_id": "XP_047291712.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.-414A>T",
"hgvs_p": null,
"transcript": "ENST00000308406.9",
"protein_id": "ENSP00000311005.5",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.-428A>T",
"hgvs_p": null,
"transcript": "ENST00000299612.11",
"protein_id": "ENSP00000299612.7",
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},
{
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "n.-106A>T",
"hgvs_p": null,
"transcript": "ENST00000571657.5",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK7",
"gene_hgnc_id": 6880,
"hgvs_c": "c.-414A>T",
"hgvs_p": null,
"transcript": "XM_006721558.4",
"protein_id": "XP_006721621.1",
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"aa_start": null,
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"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "B9D1",
"gene_hgnc_id": 24123,
"dbsnp": "rs3866958",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.344,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001368769.2",
"gene_symbol": "B9D1",
"hgnc_id": 24123,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-298+166T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_139033.3",
"gene_symbol": "MAPK7",
"hgnc_id": 6880,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-414A>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
}