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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: 10-79613996-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=79613996&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 79613996,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005411.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "NM_005411.5",
"protein_id": "NP_005402.3",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
"cds_length": 747,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "ENST00000398636.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "ENST00000398636.8",
"protein_id": "ENSP00000381633.3",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
"cds_length": 747,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "NM_005411.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "ENST00000419470.6",
"protein_id": "ENSP00000397082.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "ENST00000428376.6",
"protein_id": "ENSP00000411102.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
"cds_length": 747,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "NM_001093770.3",
"protein_id": "NP_001087239.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "NM_001164644.2",
"protein_id": "NP_001158116.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
"cds_length": 747,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "NM_001164647.1",
"protein_id": "NP_001158119.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
"cds_length": 747,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.528C>A",
"hgvs_p": "p.Asn176Lys",
"transcript": "NM_001164645.2",
"protein_id": "NP_001158117.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 214,
"cds_start": 528,
"cds_end": null,
"cds_length": 645,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.483C>A",
"hgvs_p": "p.Asn161Lys",
"transcript": "NM_001164646.2",
"protein_id": "NP_001158118.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 199,
"cds_start": 483,
"cds_end": null,
"cds_length": 600,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_006717953.3",
"protein_id": "XP_006718016.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_047425667.1",
"protein_id": "XP_047281623.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_047425668.1",
"protein_id": "XP_047281624.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_047425669.1",
"protein_id": "XP_047281625.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_047425670.1",
"protein_id": "XP_047281626.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_047425671.1",
"protein_id": "XP_047281627.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_047425672.1",
"protein_id": "XP_047281628.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
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"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "XM_047425673.1",
"protein_id": "XP_047281629.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 263,
"cds_start": 675,
"cds_end": null,
"cds_length": 792,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "XM_005270062.6",
"protein_id": "XP_005270119.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
"cds_length": 747,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "XM_047425674.1",
"protein_id": "XP_047281630.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
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"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys",
"transcript": "XM_047425675.1",
"protein_id": "XP_047281631.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 248,
"cds_start": 630,
"cds_end": null,
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"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.*156C>A",
"hgvs_p": null,
"transcript": "ENST00000429958.5",
"protein_id": "ENSP00000395527.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": -4,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"dbsnp": "rs150214547",
"frequency_reference_population": 0.0000012390607,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84051e-7,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6497922539710999,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.254,
"revel_prediction": "Benign",
"alphamissense_score": 0.3359,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.741,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005411.5",
"gene_symbol": "SFTPA1",
"hgnc_id": 10798,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.630C>A",
"hgvs_p": "p.Asn210Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}