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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: 9-127501047-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127501047&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127501047,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_138361.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001005373.4",
"protein_id": "NP_001005373.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300417.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005373.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000300417.11",
"protein_id": "ENSP00000300417.6",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300417.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000373322.1",
"protein_id": "ENSP00000362419.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373322.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2106G>A",
"hgvs_p": "p.Thr702Thr",
"transcript": "ENST00000870574.1",
"protein_id": "ENSP00000540633.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 775,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870574.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2106G>A",
"hgvs_p": "p.Thr702Thr",
"transcript": "ENST00000870580.1",
"protein_id": "ENSP00000540639.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 775,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870580.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2082G>A",
"hgvs_p": "p.Thr694Thr",
"transcript": "ENST00000942479.1",
"protein_id": "ENSP00000612538.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 767,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942479.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2082G>A",
"hgvs_p": "p.Thr694Thr",
"transcript": "ENST00000942486.1",
"protein_id": "ENSP00000612545.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 767,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942486.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2073G>A",
"hgvs_p": "p.Thr691Thr",
"transcript": "ENST00000942488.1",
"protein_id": "ENSP00000612547.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 764,
"cds_start": 2073,
"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": "ENST00000942488.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.2031G>A",
"hgvs_p": "p.Thr677Thr",
"transcript": "ENST00000676170.1",
"protein_id": "ENSP00000502177.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 750,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676170.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000870573.1",
"protein_id": "ENSP00000540632.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 733,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870573.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1974G>A",
"hgvs_p": "p.Thr658Thr",
"transcript": "ENST00000942482.1",
"protein_id": "ENSP00000612541.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 731,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942482.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001005374.4",
"protein_id": "NP_001005374.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005374.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001384142.1",
"protein_id": "NP_001371071.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384142.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_138361.5",
"protein_id": "NP_612370.3",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138361.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000323301.8",
"protein_id": "ENSP00000322937.4",
"transcript_support_level": 2,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323301.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000675448.1",
"protein_id": "ENSP00000502167.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675448.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000870579.1",
"protein_id": "ENSP00000540638.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870579.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000870581.1",
"protein_id": "ENSP00000540640.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870581.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000923145.1",
"protein_id": "ENSP00000593204.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923145.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000923146.1",
"protein_id": "ENSP00000593205.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923146.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000942478.1",
"protein_id": "ENSP00000612537.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942478.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000942483.1",
"protein_id": "ENSP00000612542.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 723,
"cds_start": 1950,
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{
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{
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{
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{
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{
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{
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],
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"gene_symbol": "LRSAM1",
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"transcript": "ENST00000674621.1",
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"biotype": "retained_intron",
"feature": "ENST00000674621.1"
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],
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"dbsnp": "rs199887448",
"frequency_reference_population": 0.00009417981,
"hom_count_reference_population": 0,
"allele_count_reference_population": 152,
"gnomad_exomes_af": 0.0000731991,
"gnomad_genomes_af": 0.000295726,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_138361.5",
"gene_symbol": "LRSAM1",
"hgnc_id": 25135,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Thr650Thr"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2P,Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not provided|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2P",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}