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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: 17-63834569-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63834569&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCD2",
"hgnc_id": 11107,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001098426.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9994,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8056662082672119,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1596,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001098426.2",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000448276.7",
"protein_coding": true,
"protein_id": "NP_001091896.1",
"strand": false,
"transcript": "NM_001098426.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1596,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000448276.7",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001098426.2",
"protein_coding": true,
"protein_id": "ENSP00000392617.2",
"strand": false,
"transcript": "ENST00000448276.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1371,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000225742.13",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000225742.9",
"strand": false,
"transcript": "ENST00000225742.13",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1683,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934855.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604914.1",
"strand": false,
"transcript": "ENST00000934855.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1587,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934857.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604916.1",
"strand": false,
"transcript": "ENST00000934857.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1548,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000869923.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539982.1",
"strand": false,
"transcript": "ENST00000869923.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1455,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698016.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513502.1",
"strand": false,
"transcript": "ENST00000698016.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1452,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330440.2",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317369.1",
"strand": false,
"transcript": "NM_001330440.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1452,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000323347.14",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318451.10",
"strand": false,
"transcript": "ENST00000323347.14",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 479,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1440,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869924.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Arg224Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539983.1",
"strand": false,
"transcript": "ENST00000869924.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1434,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698022.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513504.1",
"strand": false,
"transcript": "ENST00000698022.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1371,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001330439.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317368.1",
"strand": false,
"transcript": "NM_001330439.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1368,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934859.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604918.1",
"strand": false,
"transcript": "ENST00000934859.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1317,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698027.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513505.1",
"strand": false,
"transcript": "ENST00000698027.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1293,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934858.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604917.1",
"strand": false,
"transcript": "ENST00000934858.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 485,
"cds_end": null,
"cds_length": 1245,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952069.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622128.1",
"strand": false,
"transcript": "ENST00000952069.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 230,
"aa_ref": "R",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 993,
"cdna_start": 47,
"cds_end": null,
"cds_length": 693,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000450364.3",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Arg16Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398946.3",
"strand": false,
"transcript": "ENST00000450364.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934856.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "c.820-18C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604915.1",
"strand": false,
"transcript": "ENST00000934856.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000581832.1",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "n.355C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000581832.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000584400.5",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "n.*398C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464503.1",
"strand": false,
"transcript": "ENST00000584400.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000584483.6",
"gene_hgnc_id": 11107,
"gene_symbol": "SMARCD2",
"hgvs_c": "n.1028C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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