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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: 9-34649445-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34649445&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GALT",
"hgnc_id": 4135,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": -9,
"transcript": "NM_000155.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258728",
"hgnc_id": null,
"hgvs_c": "c.432+989A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000556278.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000294190",
"hgnc_id": null,
"hgvs_c": "n.126+2464T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000721802.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BA1",
"acmg_score": -9,
"allele_count_reference_population": 151169,
"alphamissense_prediction": null,
"alphamissense_score": 0.0636,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "9",
"clinvar_classification": " other,Conflicting classifications of pathogenicity",
"clinvar_disease": " D2),Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase,GALT POLYMORPHISM (DUARTE,GALT-related disorder,Galactosemia,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:5 LP:1 LB:3 B:4 O:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0015891492366790771,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000155.4",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378842.8",
"protein_coding": true,
"protein_id": "NP_000146.2",
"strand": true,
"transcript": "NM_000155.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378842.8",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000155.4",
"protein_coding": true,
"protein_id": "ENSP00000368119.4",
"strand": true,
"transcript": "ENST00000378842.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 279,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 902,
"cdna_start": null,
"cds_end": null,
"cds_length": 842,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556278.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258728",
"hgvs_c": "c.432+989A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451792.1",
"strand": true,
"transcript": "ENST00000556278.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 392,
"aa_ref": "N",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1179,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902340.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.979A>G",
"hgvs_p": "p.Asn327Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572399.1",
"strand": true,
"transcript": "ENST00000902340.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 388,
"aa_ref": "N",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1167,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902346.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Asn323Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572405.1",
"strand": true,
"transcript": "ENST00000902346.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902330.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572389.1",
"strand": true,
"transcript": "ENST00000902330.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000902331.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572390.1",
"strand": true,
"transcript": "ENST00000902331.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902333.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572392.1",
"strand": true,
"transcript": "ENST00000902333.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964991.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635050.1",
"strand": true,
"transcript": "ENST00000964991.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "N",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1140,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964992.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635051.1",
"strand": true,
"transcript": "ENST00000964992.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 377,
"aa_ref": "N",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1134,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936127.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.934A>G",
"hgvs_p": "p.Asn312Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606186.1",
"strand": true,
"transcript": "ENST00000936127.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1128,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902332.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572391.1",
"strand": true,
"transcript": "ENST00000902332.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1128,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902336.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572395.1",
"strand": true,
"transcript": "ENST00000902336.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1128,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902344.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Asn310Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572403.1",
"strand": true,
"transcript": "ENST00000902344.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "N",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1083,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902337.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Asn295Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572396.1",
"strand": true,
"transcript": "ENST00000902337.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 356,
"aa_ref": "N",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1071,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902339.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Asn291Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572398.1",
"strand": true,
"transcript": "ENST00000902339.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 351,
"aa_ref": "N",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1056,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902334.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.856A>G",
"hgvs_p": "p.Asn286Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572393.1",
"strand": true,
"transcript": "ENST00000902334.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 351,
"aa_ref": "N",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1056,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964993.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.856A>G",
"hgvs_p": "p.Asn286Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635052.1",
"strand": true,
"transcript": "ENST00000964993.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 347,
"aa_ref": "N",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1197,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1044,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902347.1",
"gene_hgnc_id": 4135,
"gene_symbol": "GALT",
"hgvs_c": "c.844A>G",
"hgvs_p": "p.Asn282Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572406.1",
"strand": true,
"transcript": "ENST00000902347.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1017,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902335.1",
"gene_hgnc_id": 4135,
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"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity; other",
"phenotype_combined": "GALT POLYMORPHISM (DUARTE, D2)|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia|not provided|GALT-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.735,
"pos": 34649445,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.382,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000155.4"
}
]
}