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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: 10-79940788-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=79940788&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SFTPD",
"hgnc_id": 10803,
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003019.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000283913",
"hgnc_id": null,
"hgvs_c": "n.961+4132T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000453174.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 17,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2393,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6143993139266968,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003019.5",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372292.8",
"protein_coding": true,
"protein_id": "NP_003010.4",
"strand": false,
"transcript": "NM_003019.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000372292.8",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003019.5",
"protein_coding": true,
"protein_id": "ENSP00000361366.3",
"strand": false,
"transcript": "ENST00000372292.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 431,
"aa_ref": "D",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1296,
"cds_start": 836,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946714.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Asp279Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616773.1",
"strand": false,
"transcript": "ENST00000946714.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 422,
"aa_ref": "D",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1269,
"cds_start": 809,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946710.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.809A>T",
"hgvs_p": "p.Asp270Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616769.1",
"strand": false,
"transcript": "ENST00000946710.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 421,
"aa_ref": "D",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1266,
"cds_start": 806,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946715.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.806A>T",
"hgvs_p": "p.Asp269Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616774.1",
"strand": false,
"transcript": "ENST00000946715.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 407,
"aa_ref": "D",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1224,
"cds_start": 764,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865185.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Asp255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535244.1",
"strand": false,
"transcript": "ENST00000865185.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 407,
"aa_ref": "D",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1224,
"cds_start": 764,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946713.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Asp255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616772.1",
"strand": false,
"transcript": "ENST00000946713.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865181.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535240.1",
"strand": false,
"transcript": "ENST00000865181.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1372,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865182.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535241.1",
"strand": false,
"transcript": "ENST00000865182.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865183.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535242.1",
"strand": false,
"transcript": "ENST00000865183.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000865184.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535243.1",
"strand": false,
"transcript": "ENST00000865184.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865188.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535247.1",
"strand": false,
"transcript": "ENST00000865188.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 862,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865189.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535248.1",
"strand": false,
"transcript": "ENST00000865189.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865190.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535249.1",
"strand": false,
"transcript": "ENST00000865190.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946699.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616758.1",
"strand": false,
"transcript": "ENST00000946699.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1128,
"cds_start": 668,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946707.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.668A>T",
"hgvs_p": "p.Asp223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616766.1",
"strand": false,
"transcript": "ENST00000946707.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 374,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1300,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1125,
"cds_start": 665,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946706.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.665A>T",
"hgvs_p": "p.Asp222Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616765.1",
"strand": false,
"transcript": "ENST00000946706.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "D",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1119,
"cds_start": 659,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865191.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.659A>T",
"hgvs_p": "p.Asp220Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535250.1",
"strand": false,
"transcript": "ENST00000865191.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "D",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1307,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1119,
"cds_start": 659,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946705.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.659A>T",
"hgvs_p": "p.Asp220Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616764.1",
"strand": false,
"transcript": "ENST00000946705.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 336,
"aa_ref": "D",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1011,
"cds_start": 551,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865186.1",
"gene_hgnc_id": 10803,
"gene_symbol": "SFTPD",
"hgvs_c": "c.551A>T",
"hgvs_p": "p.Asp184Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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