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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: 16-20920126-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20920126&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20920126,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001369631.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001128302.3",
"protein_id": "NP_001121774.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000567954.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128302.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "ENST00000567954.6",
"protein_id": "ENSP00000457333.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128302.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567954.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "ENST00000396052.3",
"protein_id": "ENSP00000379367.2",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396052.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.-104C>A",
"hgvs_p": null,
"transcript": "ENST00000412082.6",
"protein_id": "ENSP00000396868.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 33,
"cds_start": null,
"cds_end": null,
"cds_length": 102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412082.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.-104C>A",
"hgvs_p": null,
"transcript": "ENST00000562740.5",
"protein_id": "ENSP00000454759.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 33,
"cds_start": null,
"cds_end": null,
"cds_length": 102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562740.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "n.164C>A",
"hgvs_p": null,
"transcript": "ENST00000567165.5",
"protein_id": "ENSP00000457743.1",
"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": "ENST00000567165.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "n.164C>A",
"hgvs_p": null,
"transcript": "ENST00000568820.5",
"protein_id": "ENSP00000454890.1",
"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": "ENST00000568820.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.179C>A",
"hgvs_p": "p.Thr60Lys",
"transcript": "NM_001369631.1",
"protein_id": "NP_001356560.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 127,
"cds_start": 179,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369631.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001128301.3",
"protein_id": "NP_001121773.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128301.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001302835.2",
"protein_id": "NP_001289764.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302835.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001302836.2",
"protein_id": "NP_001289765.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302836.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369632.1",
"protein_id": "NP_001356561.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369632.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369633.1",
"protein_id": "NP_001356562.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369633.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369634.1",
"protein_id": "NP_001356563.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369634.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369635.1",
"protein_id": "NP_001356564.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369635.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369636.1",
"protein_id": "NP_001356565.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369636.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369637.1",
"protein_id": "NP_001356566.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369637.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369638.1",
"protein_id": "NP_001356567.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369638.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369639.1",
"protein_id": "NP_001356568.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369639.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369641.1",
"protein_id": "NP_001356570.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369641.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369642.1",
"protein_id": "NP_001356571.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369642.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "NM_001369644.1",
"protein_id": "NP_001356573.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 122,
"cds_start": 164,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369644.1"
},
{
"aa_ref": "T",
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"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": "pseudogene",
"feature": "NR_161427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"hgvs_c": "n.283-3874C>A",
"hgvs_p": null,
"transcript": "NR_161430.1",
"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": "pseudogene",
"feature": "NR_161430.1"
}
],
"gene_symbol": "LYRM1",
"gene_hgnc_id": 25074,
"dbsnp": "rs759338347",
"frequency_reference_population": 0.0000018655255,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.86808e-7,
"gnomad_genomes_af": 0.0000131479,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6478918790817261,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.526,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.186,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001369631.1",
"gene_symbol": "LYRM1",
"hgnc_id": 25074,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.179C>A",
"hgvs_p": "p.Thr60Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}