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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: 13-49552181-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49552181&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 49552181,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_018191.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "NM_018191.4",
"protein_id": "NP_060661.3",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378302.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018191.4"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000378302.7",
"protein_id": "ENSP00000367552.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018191.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378302.7"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "NM_001352500.2",
"protein_id": "NP_001339429.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352500.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "NM_001352501.2",
"protein_id": "NP_001339430.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352501.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "NM_001352502.2",
"protein_id": "NP_001339431.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352502.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "NM_001352503.2",
"protein_id": "NP_001339432.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352503.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000258646.3",
"protein_id": "ENSP00000258646.3",
"transcript_support_level": 2,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258646.3"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000860932.1",
"protein_id": "ENSP00000530991.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860932.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000860933.1",
"protein_id": "ENSP00000530992.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860933.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000860934.1",
"protein_id": "ENSP00000530993.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860934.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000860935.1",
"protein_id": "ENSP00000530994.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860935.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000919057.1",
"protein_id": "ENSP00000589116.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919057.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000949631.1",
"protein_id": "ENSP00000619690.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949631.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000949633.1",
"protein_id": "ENSP00000619692.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949633.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000949636.1",
"protein_id": "ENSP00000619695.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949636.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000949637.1",
"protein_id": "ENSP00000619696.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 531,
"cds_start": 707,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949637.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000919059.1",
"protein_id": "ENSP00000589118.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 528,
"cds_start": 707,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919059.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "ENST00000949632.1",
"protein_id": "ENSP00000619691.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 524,
"cds_start": 707,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949632.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "NM_001352504.2",
"protein_id": "NP_001339433.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 487,
"cds_start": 707,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352504.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.464delA",
"hgvs_p": "p.Asn155fs",
"transcript": "ENST00000949634.1",
"protein_id": "ENSP00000619693.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 450,
"cds_start": 464,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949634.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.464delA",
"hgvs_p": "p.Asn155fs",
"transcript": "ENST00000949635.1",
"protein_id": "ENSP00000619694.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 450,
"cds_start": 464,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949635.1"
},
{
"aa_ref": "N",
"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": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.707delA",
"hgvs_p": "p.Asn236fs",
"transcript": "NM_001352505.2",
"protein_id": "NP_001339434.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 355,
"cds_start": 707,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352505.2"
},
{
"aa_ref": "N",
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],
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 2.712,
"phylop100way_prediction": "Benign",
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"acmg_score": 16,
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{
"score": 16,
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"verdict": "Pathogenic",
"transcript": "NM_018191.4",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "Exudative retinopathy,RCBTB1-related retinopathy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Exudative retinopathy|not provided|RCBTB1-related retinopathy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}