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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: 10-96192063-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96192063&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96192063,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_013314.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Arg427Arg",
"transcript": "NM_013314.4",
"protein_id": "NP_037446.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 456,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000224337.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013314.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Arg427Arg",
"transcript": "ENST00000224337.10",
"protein_id": "ENSP00000224337.6",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 456,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013314.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000224337.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1212G>A",
"hgvs_p": "p.Arg404Arg",
"transcript": "ENST00000371176.7",
"protein_id": "ENSP00000360218.2",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 433,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371176.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Arg375Arg",
"transcript": "ENST00000413476.6",
"protein_id": "ENSP00000397487.2",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 404,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413476.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Arg270Arg",
"transcript": "ENST00000427367.6",
"protein_id": "ENSP00000391924.3",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 299,
"cds_start": 810,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427367.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Arg427Arg",
"transcript": "ENST00000896451.1",
"protein_id": "ENSP00000566510.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 456,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896451.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1269G>A",
"hgvs_p": "p.Arg423Arg",
"transcript": "ENST00000696514.1",
"protein_id": "ENSP00000512680.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 452,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696514.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1212G>A",
"hgvs_p": "p.Arg404Arg",
"transcript": "NM_001114094.2",
"protein_id": "NP_001107566.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 433,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114094.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1200G>A",
"hgvs_p": "p.Arg400Arg",
"transcript": "ENST00000896452.1",
"protein_id": "ENSP00000566511.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 429,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896452.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1164G>A",
"hgvs_p": "p.Arg388Arg",
"transcript": "ENST00000896453.1",
"protein_id": "ENSP00000566512.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 417,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896453.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Arg375Arg",
"transcript": "NM_001258440.2",
"protein_id": "NP_001245369.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 404,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258440.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1056G>A",
"hgvs_p": "p.Arg352Arg",
"transcript": "NM_001258441.2",
"protein_id": "NP_001245370.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 381,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258441.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.1056G>A",
"hgvs_p": "p.Arg352Arg",
"transcript": "ENST00000696253.1",
"protein_id": "ENSP00000512506.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 381,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696253.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Arg270Arg",
"transcript": "NM_001258442.2",
"protein_id": "NP_001245371.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 299,
"cds_start": 810,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258442.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Arg270Arg",
"transcript": "ENST00000696248.1",
"protein_id": "ENSP00000512505.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 299,
"cds_start": 810,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.*65G>A",
"hgvs_p": null,
"transcript": "ENST00000696513.1",
"protein_id": "ENSP00000512679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": null,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*751G>A",
"hgvs_p": null,
"transcript": "ENST00000467799.7",
"protein_id": "ENSP00000466331.3",
"transcript_support_level": 5,
"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": "ENST00000467799.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*682G>A",
"hgvs_p": null,
"transcript": "ENST00000696255.1",
"protein_id": "ENSP00000512507.1",
"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": "ENST00000696255.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*944G>A",
"hgvs_p": null,
"transcript": "ENST00000696257.1",
"protein_id": "ENSP00000512509.1",
"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": "ENST00000696257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.1549G>A",
"hgvs_p": null,
"transcript": "ENST00000696515.1",
"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": "ENST00000696515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*792G>A",
"hgvs_p": null,
"transcript": "ENST00000696516.1",
"protein_id": "ENSP00000512681.1",
"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": "ENST00000696516.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*682G>A",
"hgvs_p": null,
"transcript": "ENST00000696517.1",
"protein_id": "ENSP00000512682.1",
"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": "ENST00000696517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_013314.4",
"gene_symbol": "BLNK",
"hgnc_id": 14211,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Arg427Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000563195.1",
"gene_symbol": "ZNF518A",
"hgnc_id": 29009,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.226-11857C>T",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive,Agammaglobulinemia 4",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Agammaglobulinemia 4, autosomal recessive",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}