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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: 5-893049-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=893049&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 893049,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004237.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP13",
"gene_hgnc_id": 12307,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Glu17Glu",
"transcript": "NM_004237.4",
"protein_id": "NP_004228.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 432,
"cds_start": 51,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "ENST00000166345.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004237.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP13",
"gene_hgnc_id": 12307,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Glu17Glu",
"transcript": "ENST00000166345.8",
"protein_id": "ENSP00000166345.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 432,
"cds_start": 51,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "NM_004237.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000166345.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP13",
"gene_hgnc_id": 12307,
"hgvs_c": "n.166G>A",
"hgvs_p": null,
"transcript": "ENST00000512024.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512024.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP13",
"gene_hgnc_id": 12307,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Glu17Glu",
"transcript": "ENST00000891004.1",
"protein_id": "ENSP00000561063.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 430,
"cds_start": 51,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891004.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP13",
"gene_hgnc_id": 12307,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Glu17Glu",
"transcript": "NM_001166260.2",
"protein_id": "NP_001159732.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 289,
"cds_start": 51,
"cds_end": null,
"cds_length": 870,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166260.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP13",
"gene_hgnc_id": 12307,
"hgvs_c": "c.51G>A",
"hgvs_p": "p.Glu17Glu",
"transcript": "XM_011514163.2",
"protein_id": "XP_011512465.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 432,
"cds_start": 51,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514163.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP13",
"gene_hgnc_id": 12307,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000508456.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 313,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "NM_023924.5",
"protein_id": "NP_076413.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": "ENST00000467963.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023924.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000467963.6",
"protein_id": "ENSP00000419765.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": "NM_023924.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467963.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "NM_001375861.1",
"protein_id": "NP_001362790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "NM_001375862.1",
"protein_id": "NP_001362791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "NM_001375863.1",
"protein_id": "NP_001362792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000944369.1",
"protein_id": "ENSP00000614428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000869701.1",
"protein_id": "ENSP00000539760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": null,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "NM_001375877.1",
"protein_id": "NP_001362806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375877.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000869700.1",
"protein_id": "ENSP00000539759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000869705.1",
"protein_id": "ENSP00000539764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000869703.1",
"protein_id": "ENSP00000539762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000869704.1",
"protein_id": "ENSP00000539763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "NM_001375878.1",
"protein_id": "NP_001362807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375878.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "ENST00000922420.1",
"protein_id": "ENSP00000592479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD9",
"gene_hgnc_id": 25818,
"hgvs_c": "c.-392C>T",
"hgvs_p": null,
"transcript": "NM_001375879.1",
"protein_id": "NP_001362808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": null,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"splice_prediction_selected": "Benign",
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{
"score": -7,
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"BP6_Moderate",
"BP7"
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"verdict": "Benign",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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{
"score": -4,
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"BP6_Moderate"
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],
"clinvar_disease": "TRIP13-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "TRIP13-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}