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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: 7-47539433-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=47539433&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 47539433,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000311160.14",
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-264-10286G>A",
"hgvs_p": null,
"transcript": "NM_022748.12",
"protein_id": "NP_073585.8",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7585,
"mane_select": "ENST00000311160.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-264-10286G>A",
"hgvs_p": null,
"transcript": "ENST00000311160.14",
"protein_id": "ENSP00000312143.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7585,
"mane_select": "NM_022748.12",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "n.-265+66G>A",
"hgvs_p": null,
"transcript": "ENST00000442536.6",
"protein_id": "ENSP00000389285.2",
"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": 1166,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.46-10286G>A",
"hgvs_p": null,
"transcript": "NM_001410878.1",
"protein_id": "NP_001397807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1548,
"cds_start": -4,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7684,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.46-10286G>A",
"hgvs_p": null,
"transcript": "ENST00000457718.6",
"protein_id": "ENSP00000414358.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1548,
"cds_start": -4,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7656,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.85-10286G>A",
"hgvs_p": null,
"transcript": "ENST00000434451.1",
"protein_id": "ENSP00000407464.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"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": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.127-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420723.1",
"protein_id": "XP_047276679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1575,
"cds_start": -4,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7756,
"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": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.127-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420724.1",
"protein_id": "XP_047276680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1575,
"cds_start": -4,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7763,
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.85-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420725.1",
"protein_id": "XP_047276681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1561,
"cds_start": -4,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7699,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.85-10286G>A",
"hgvs_p": null,
"transcript": "XM_017012537.2",
"protein_id": "XP_016868026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1548,
"cds_start": -4,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7599,
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.13-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420728.1",
"protein_id": "XP_047276684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1537,
"cds_start": -4,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7642,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.46-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420729.1",
"protein_id": "XP_047276685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1535,
"cds_start": -4,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7645,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-265+66G>A",
"hgvs_p": null,
"transcript": "XM_011515480.4",
"protein_id": "XP_011513782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7653,
"mane_select": null,
"mane_plus": null,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-264-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420730.1",
"protein_id": "XP_047276686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-225-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420731.1",
"protein_id": "XP_047276687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7546,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-264-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420732.1",
"protein_id": "XP_047276688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
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"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-264-10286G>A",
"hgvs_p": null,
"transcript": "XM_047420733.1",
"protein_id": "XP_047276689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7589,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-265+6839G>A",
"hgvs_p": null,
"transcript": "XM_047420735.1",
"protein_id": "XP_047276691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1445,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 8157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-356G>A",
"hgvs_p": null,
"transcript": "ENST00000450444.6",
"protein_id": "ENSP00000396914.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"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": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"hgvs_c": "c.-356G>A",
"hgvs_p": null,
"transcript": "XM_011515478.3",
"protein_id": "XP_011513780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": -4,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
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"cdna_length": 7694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNS3",
"gene_hgnc_id": 21616,
"dbsnp": "rs334504",
"frequency_reference_population": 0.0000065754,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065754,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.627,
"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": -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": "ENST00000311160.14",
"gene_symbol": "TNS3",
"hgnc_id": 21616,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-264-10286G>A",
"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
}