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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: 10-79612324-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=79612324&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 79612324,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005411.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "NM_005411.5",
"protein_id": "NP_005402.3",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
"cds_end": null,
"cds_length": 747,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "ENST00000398636.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "ENST00000398636.8",
"protein_id": "ENSP00000381633.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
"cds_end": null,
"cds_length": 747,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "NM_005411.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "ENST00000419470.6",
"protein_id": "ENSP00000397082.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "ENST00000428376.6",
"protein_id": "ENSP00000411102.2",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
"cds_end": null,
"cds_length": 747,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "ENST00000429958.5",
"protein_id": "ENSP00000395527.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 157,
"cds_start": 185,
"cds_end": null,
"cds_length": 474,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "NM_001093770.3",
"protein_id": "NP_001087239.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "NM_001164644.2",
"protein_id": "NP_001158116.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
"cds_end": null,
"cds_length": 747,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "NM_001164647.1",
"protein_id": "NP_001158119.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
"cds_end": null,
"cds_length": 747,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_006717953.3",
"protein_id": "XP_006718016.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_047425667.1",
"protein_id": "XP_047281623.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_047425668.1",
"protein_id": "XP_047281624.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_047425669.1",
"protein_id": "XP_047281625.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_047425670.1",
"protein_id": "XP_047281626.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_047425671.1",
"protein_id": "XP_047281627.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_047425672.1",
"protein_id": "XP_047281628.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "XM_047425673.1",
"protein_id": "XP_047281629.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 263,
"cds_start": 230,
"cds_end": null,
"cds_length": 792,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "XM_005270062.6",
"protein_id": "XP_005270119.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
"cds_end": null,
"cds_length": 747,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "XM_047425674.1",
"protein_id": "XP_047281630.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
"cds_end": null,
"cds_length": 747,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "XM_047425675.1",
"protein_id": "XP_047281631.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 248,
"cds_start": 185,
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"cdna_start": 311,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.131-48C>T",
"hgvs_p": null,
"transcript": "NM_001164645.2",
"protein_id": "NP_001158117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2072,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"hgvs_c": "c.86-48C>T",
"hgvs_p": null,
"transcript": "NM_001164646.2",
"protein_id": "NP_001158118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SFTPA1",
"gene_hgnc_id": 10798,
"dbsnp": "rs151242911",
"frequency_reference_population": 0.0041136835,
"hom_count_reference_population": 15,
"allele_count_reference_population": 6639,
"gnomad_exomes_af": 0.00424245,
"gnomad_genomes_af": 0.0028773,
"gnomad_exomes_ac": 6201,
"gnomad_genomes_ac": 438,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020571470260620117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.568,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.959,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005411.5",
"gene_symbol": "SFTPA1",
"hgnc_id": 10798,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}