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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: 11-68171637-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68171637&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68171637,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_017635.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "NM_017635.5",
"protein_id": "NP_060105.3",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 885,
"cds_start": 725,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304363.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017635.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "ENST00000304363.9",
"protein_id": "ENSP00000305899.4",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 885,
"cds_start": 725,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017635.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304363.9"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "ENST00000615954.4",
"protein_id": "ENSP00000484858.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 885,
"cds_start": 725,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615954.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "ENST00000401547.6",
"protein_id": "ENSP00000385965.2",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 393,
"cds_start": 725,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401547.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "n.725delT",
"hgvs_p": null,
"transcript": "ENST00000441488.6",
"protein_id": "ENSP00000411146.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441488.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "NM_001369426.1",
"protein_id": "NP_001356355.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 885,
"cds_start": 725,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369426.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.512delT",
"hgvs_p": "p.Leu171fs",
"transcript": "ENST00000453170.6",
"protein_id": "ENSP00000406377.2",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 814,
"cds_start": 512,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453170.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "NM_001300907.1",
"protein_id": "NP_001287836.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300907.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "NM_001369428.1",
"protein_id": "NP_001356357.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369428.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "NM_001369429.1",
"protein_id": "NP_001356358.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369429.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "NM_001369430.1",
"protein_id": "NP_001356359.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369430.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "NM_001369431.1",
"protein_id": "NP_001356360.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369431.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "NM_001369432.1",
"protein_id": "NP_001356361.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369432.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "NM_001369433.1",
"protein_id": "NP_001356362.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369433.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.209delT",
"hgvs_p": "p.Leu70fs",
"transcript": "ENST00000700523.1",
"protein_id": "ENSP00000515030.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 713,
"cds_start": 209,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700523.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.5delT",
"hgvs_p": "p.Leu2fs",
"transcript": "NM_001300908.2",
"protein_id": "NP_001287837.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 645,
"cds_start": 5,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300908.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "NM_001363566.2",
"protein_id": "NP_001350495.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 402,
"cds_start": 725,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363566.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "ENST00000402789.5",
"protein_id": "ENSP00000385005.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 402,
"cds_start": 725,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402789.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "NM_001369427.1",
"protein_id": "NP_001356356.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 393,
"cds_start": 725,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369427.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "NM_016028.4",
"protein_id": "NP_057112.3",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 393,
"cds_start": 725,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016028.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs",
"transcript": "ENST00000405515.5",
"protein_id": "ENSP00000385640.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 393,
"cds_start": 725,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405515.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.656delT",
"hgvs_p": "p.Leu219fs",
"transcript": "NM_001300909.2",
"protein_id": "NP_001287838.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 370,
"cds_start": 656,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300909.2"
},
{
"aa_ref": "L",
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{
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{
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{
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{
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"biotype": "pseudogene",
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{
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"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "KMT5B",
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"biotype": "pseudogene",
"feature": "ENST00000533271.5"
}
],
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"dbsnp": "rs1555028154",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_017635.5",
"gene_symbol": "KMT5B",
"hgnc_id": 24283,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.725delT",
"hgvs_p": "p.Leu242fs"
}
],
"clinvar_disease": " autosomal dominant 51,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Intellectual disability, autosomal dominant 51|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}