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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: 10-70844506-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70844506&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70844506,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000373202.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "NM_003901.4",
"protein_id": "NP_003892.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 5778,
"mane_select": "ENST00000373202.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "ENST00000373202.8",
"protein_id": "ENSP00000362298.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 5778,
"mane_select": "NM_003901.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "NM_001438353.1",
"protein_id": "NP_001425282.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 579,
"cds_start": 61,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "NM_001438354.1",
"protein_id": "NP_001425283.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "NM_001438355.1",
"protein_id": "NP_001425284.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "NM_001438356.1",
"protein_id": "NP_001425285.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "NM_001438357.2",
"protein_id": "NP_001425286.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 5837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "ENST00000697928.1",
"protein_id": "ENSP00000513482.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "ENST00000697931.1",
"protein_id": "ENSP00000513485.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "ENST00000697932.1",
"protein_id": "ENSP00000513486.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 568,
"cds_start": 61,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Val4Ile",
"transcript": "ENST00000299297.8",
"protein_id": "ENSP00000299297.4",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 202,
"cds_start": 10,
"cds_end": null,
"cds_length": 609,
"cdna_start": 10,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile",
"transcript": "ENST00000697929.1",
"protein_id": "ENSP00000513483.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 78,
"cds_start": 61,
"cds_end": null,
"cds_length": 237,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.326G>A",
"hgvs_p": null,
"transcript": "ENST00000697924.1",
"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": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.61G>A",
"hgvs_p": null,
"transcript": "ENST00000697925.1",
"protein_id": "ENSP00000513479.1",
"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": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.61G>A",
"hgvs_p": null,
"transcript": "ENST00000697989.1",
"protein_id": "ENSP00000513493.1",
"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": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.283G>A",
"hgvs_p": null,
"transcript": "NR_199385.1",
"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,
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"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.-180G>A",
"hgvs_p": null,
"transcript": "NM_001437828.1",
"protein_id": "NP_001424757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.-180G>A",
"hgvs_p": null,
"transcript": "ENST00000697926.1",
"protein_id": "ENSP00000513480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.-180G>A",
"hgvs_p": null,
"transcript": "ENST00000697927.1",
"protein_id": "ENSP00000513481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.-180G>A",
"hgvs_p": null,
"transcript": "ENST00000697930.1",
"protein_id": "ENSP00000513484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.-180G>A",
"hgvs_p": null,
"transcript": "ENST00000697988.1",
"protein_id": "ENSP00000513492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.-180G>A",
"hgvs_p": null,
"transcript": "ENST00000697990.2",
"protein_id": "ENSP00000520631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"dbsnp": "rs12770335",
"frequency_reference_population": 0.0000013683447,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136834,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09668967127799988,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.927,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000373202.8",
"gene_symbol": "SGPL1",
"hgnc_id": 10817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Val21Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}