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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: 17-44207517-G-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44207517&ref=G&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44207517,
"ref": "G",
"alt": "GGA",
"effect": "frameshift_variant",
"transcript": "NM_014233.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "NM_014233.4",
"protein_id": "NP_055048.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436088.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014233.4"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000436088.6",
"protein_id": "ENSP00000390669.1",
"transcript_support_level": 2,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014233.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436088.6"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000529383.5",
"protein_id": "ENSP00000435708.1",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529383.5"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1993_1994dupTC",
"hgvs_p": "p.Ser666fs",
"transcript": "ENST00000343638.9",
"protein_id": "ENSP00000345297.5",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 727,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343638.9"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1993_1994dupTC",
"hgvs_p": "p.Ser666fs",
"transcript": "ENST00000393606.7",
"protein_id": "ENSP00000377231.3",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 727,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393606.7"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2155_2156dupTC",
"hgvs_p": "p.Ser720fs",
"transcript": "ENST00000905776.1",
"protein_id": "ENSP00000575835.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 781,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905776.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2155_2156dupTC",
"hgvs_p": "p.Ser720fs",
"transcript": "ENST00000905789.1",
"protein_id": "ENSP00000575848.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 781,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905789.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2155_2156dupTC",
"hgvs_p": "p.Ser720fs",
"transcript": "ENST00000931845.1",
"protein_id": "ENSP00000601904.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 781,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931845.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2155_2156dupTC",
"hgvs_p": "p.Ser720fs",
"transcript": "ENST00000962309.1",
"protein_id": "ENSP00000632368.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 781,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962309.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000302904.8",
"protein_id": "ENSP00000302640.4",
"transcript_support_level": 2,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302904.8"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000704741.1",
"protein_id": "ENSP00000516019.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704741.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000704746.1",
"protein_id": "ENSP00000516023.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704746.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000905780.1",
"protein_id": "ENSP00000575839.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905780.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000905782.1",
"protein_id": "ENSP00000575841.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905782.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000905794.1",
"protein_id": "ENSP00000575853.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905794.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000905798.1",
"protein_id": "ENSP00000575857.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905798.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000931835.1",
"protein_id": "ENSP00000601894.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931835.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000931839.1",
"protein_id": "ENSP00000601898.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931839.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104_2105dupTC",
"hgvs_p": "p.Ser703fs",
"transcript": "ENST00000931842.1",
"protein_id": "ENSP00000601901.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 764,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931842.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2101_2102dupTC",
"hgvs_p": "p.Ser702fs",
"transcript": "ENST00000962308.1",
"protein_id": "ENSP00000632367.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 763,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962308.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2098_2099dupTC",
"hgvs_p": "p.Ser701fs",
"transcript": "ENST00000905793.1",
"protein_id": "ENSP00000575852.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 762,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905793.1"
},
{
"aa_ref": "S",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2089_2090dupTC",
"hgvs_p": "p.Ser698fs",
"transcript": "ENST00000962304.1",
"protein_id": "ENSP00000632363.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 759,
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{
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"PM2"
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{
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"PP3"
],
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"effects": [
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}