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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: 4-128969635-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=128969635&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 128969635,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000281142.10",
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "NM_144643.4",
"protein_id": "NP_653244.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": "ENST00000281142.10",
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "ENST00000281142.10",
"protein_id": "ENSP00000281142.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": "NM_144643.4",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.617+22532A>G",
"hgvs_p": null,
"transcript": "ENST00000503215.5",
"protein_id": "ENSP00000424029.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": -4,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1364,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.290+69406A>G",
"hgvs_p": null,
"transcript": "ENST00000439369.6",
"protein_id": "ENSP00000395292.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "NM_001410807.1",
"protein_id": "NP_001397736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2019,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "n.244+743A>G",
"hgvs_p": null,
"transcript": "ENST00000502495.1",
"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": 1811,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "n.1995+743A>G",
"hgvs_p": null,
"transcript": "ENST00000506233.5",
"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": 3673,
"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": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "n.777+743A>G",
"hgvs_p": null,
"transcript": "ENST00000651532.1",
"protein_id": "ENSP00000498519.1",
"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": 3311,
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_017007716.3",
"protein_id": "XP_016863205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2999,
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_017007717.3",
"protein_id": "XP_016863206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5848,
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_047449590.1",
"protein_id": "XP_047305546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_017007718.3",
"protein_id": "XP_016863207.1",
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"aa_start": null,
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"aa_length": 657,
"cds_start": -4,
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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": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_047449592.1",
"protein_id": "XP_047305548.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 653,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.528+743A>G",
"hgvs_p": null,
"transcript": "XM_017007719.2",
"protein_id": "XP_016863208.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_047449593.1",
"protein_id": "XP_047305549.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
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"transcript": "XM_047449594.1",
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},
{
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],
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"exon_count": 15,
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"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_047449596.1",
"protein_id": "XP_047305552.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"hgvs_c": "c.777+743A>G",
"hgvs_p": null,
"transcript": "XM_047449597.1",
"protein_id": "XP_047305553.1",
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SCLT1",
"gene_hgnc_id": 26406,
"dbsnp": "rs7655841",
"frequency_reference_population": 0.26437077,
"hom_count_reference_population": 6836,
"allele_count_reference_population": 40187,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.264371,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 40187,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 6836,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.065,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000281142.10",
"gene_symbol": "SCLT1",
"hgnc_id": 26406,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.777+743A>G",
"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
}