← Back to variant description
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: 10-70876608-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70876608&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70876608,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001438353.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "NM_003901.4",
"protein_id": "NP_003892.2",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373202.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003901.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000373202.8",
"protein_id": "ENSP00000362298.3",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003901.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373202.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1546C>G",
"hgvs_p": "p.Arg516Gly",
"transcript": "NM_001438353.1",
"protein_id": "NP_001425282.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 579,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438353.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "NM_001438354.1",
"protein_id": "NP_001425283.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438354.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "NM_001438355.1",
"protein_id": "NP_001425284.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438355.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "NM_001438356.1",
"protein_id": "NP_001425285.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438356.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "NM_001438357.2",
"protein_id": "NP_001425286.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438357.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000697928.1",
"protein_id": "ENSP00000513482.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697928.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000697931.1",
"protein_id": "ENSP00000513485.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697931.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000697932.1",
"protein_id": "ENSP00000513486.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 568,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697932.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1273C>G",
"hgvs_p": "p.Arg425Gly",
"transcript": "NM_001437828.1",
"protein_id": "NP_001424757.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 488,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437828.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1273C>G",
"hgvs_p": "p.Arg425Gly",
"transcript": "ENST00000697926.1",
"protein_id": "ENSP00000513480.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 488,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697926.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1273C>G",
"hgvs_p": "p.Arg425Gly",
"transcript": "ENST00000697927.1",
"protein_id": "ENSP00000513481.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 488,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697927.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.1273C>G",
"hgvs_p": "p.Arg425Gly",
"transcript": "ENST00000697930.1",
"protein_id": "ENSP00000513484.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 488,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.570+6711C>G",
"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": null,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697988.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "c.464+8175C>G",
"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": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697990.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.2769C>G",
"hgvs_p": null,
"transcript": "ENST00000697924.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000697924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.*888C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.*1925C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.1671C>G",
"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": 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": "NR_199385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.*888C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"hgvs_c": "n.*1925C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697989.1"
}
],
"gene_symbol": "SGPL1",
"gene_hgnc_id": 10817,
"dbsnp": "rs746887949",
"frequency_reference_population": 0.000004792518,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479252,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.643860399723053,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.3658,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.332,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438353.1",
"gene_symbol": "SGPL1",
"hgnc_id": 10817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1546C>G",
"hgvs_p": "p.Arg516Gly"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}