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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: 1-151132921-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151132921&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151132921,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001178061.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "NM_030913.6",
"protein_id": "NP_112175.2",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368914.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030913.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000368914.8",
"protein_id": "ENSP00000357910.3",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030913.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368914.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Pro818Ser",
"transcript": "ENST00000368913.7",
"protein_id": "ENSP00000357909.3",
"transcript_support_level": 1,
"aa_start": 818,
"aa_end": null,
"aa_length": 962,
"cds_start": 2452,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368913.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000341697.7",
"protein_id": "ENSP00000344148.3",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341697.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Pro778Ser",
"transcript": "ENST00000368912.7",
"protein_id": "ENSP00000357908.3",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 922,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368912.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2491C>T",
"hgvs_p": "p.Pro831Ser",
"transcript": "ENST00000967245.1",
"protein_id": "ENSP00000637304.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 975,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967245.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Pro818Ser",
"transcript": "NM_001178061.3",
"protein_id": "NP_001171532.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 962,
"cds_start": 2452,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178061.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Pro818Ser",
"transcript": "ENST00000866885.1",
"protein_id": "ENSP00000536944.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 962,
"cds_start": 2452,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866885.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000866869.1",
"protein_id": "ENSP00000536928.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866869.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000866870.1",
"protein_id": "ENSP00000536929.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866870.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000866871.1",
"protein_id": "ENSP00000536930.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866871.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000866875.1",
"protein_id": "ENSP00000536934.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866875.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000866879.1",
"protein_id": "ENSP00000536938.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866879.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000866880.1",
"protein_id": "ENSP00000536939.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866880.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000866888.1",
"protein_id": "ENSP00000536947.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866888.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000927933.1",
"protein_id": "ENSP00000597992.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927933.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000927935.1",
"protein_id": "ENSP00000597994.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927935.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Pro786Ser",
"transcript": "ENST00000967242.1",
"protein_id": "ENSP00000637301.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 930,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967242.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Pro785Ser",
"transcript": "ENST00000927934.1",
"protein_id": "ENSP00000597993.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 929,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927934.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Pro778Ser",
"transcript": "NM_001178062.3",
"protein_id": "NP_001171533.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 922,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178062.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2254C>T",
"hgvs_p": "p.Pro752Ser",
"transcript": "ENST00000866873.1",
"protein_id": "ENSP00000536932.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 896,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866873.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "c.2254C>T",
"hgvs_p": "p.Pro752Ser",
"transcript": "ENST00000967243.1",
"protein_id": "ENSP00000637302.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
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"transcript": "XM_047431998.1",
"protein_id": "XP_047287954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"hgvs_c": "n.-53C>T",
"hgvs_p": null,
"transcript": "ENST00000479820.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000479820.1"
}
],
"gene_symbol": "SEMA6C",
"gene_hgnc_id": 10740,
"dbsnp": "rs1319959990",
"frequency_reference_population": 8.071794e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 8.07179e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0690717101097107,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0746,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.185,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001178061.3",
"gene_symbol": "SEMA6C",
"hgnc_id": 10740,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Pro818Ser"
}
],
"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
}