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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: X-155939784-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=155939784&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 155939784,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001185183.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"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": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Arg173Ser",
"transcript": "ENST00000262640.11",
"protein_id": "ENSP00000262640.6",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 260,
"cds_start": 517,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262640.11"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Ile195Ile",
"transcript": "NM_005638.6",
"protein_id": "NP_005629.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 220,
"cds_start": 585,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286448.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005638.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Ile195Ile",
"transcript": "ENST00000286448.12",
"protein_id": "ENSP00000286448.6",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 220,
"cds_start": 585,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005638.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286448.12"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.462C>A",
"hgvs_p": "p.Ile154Ile",
"transcript": "ENST00000460621.6",
"protein_id": "ENSP00000427822.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 179,
"cds_start": 462,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460621.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Arg173Ser",
"transcript": "NM_001185183.2",
"protein_id": "NP_001172112.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 260,
"cds_start": 517,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185183.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"transcript": "XM_011531188.2",
"protein_id": "XP_011529490.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 213,
"cds_start": 376,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531188.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.603C>A",
"hgvs_p": "p.Ile201Ile",
"transcript": "ENST00000942503.1",
"protein_id": "ENSP00000612562.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 226,
"cds_start": 603,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942503.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Ile195Ile",
"transcript": "ENST00000936172.1",
"protein_id": "ENSP00000606231.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 220,
"cds_start": 585,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936172.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Ile195Ile",
"transcript": "ENST00000936173.1",
"protein_id": "ENSP00000606232.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 220,
"cds_start": 585,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936173.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Ile195Ile",
"transcript": "ENST00000942504.1",
"protein_id": "ENSP00000612563.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 220,
"cds_start": 585,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942504.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Ile195Ile",
"transcript": "ENST00000942506.1",
"protein_id": "ENSP00000612565.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 220,
"cds_start": 585,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942506.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Ile194Ile",
"transcript": "ENST00000895988.1",
"protein_id": "ENSP00000566047.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 219,
"cds_start": 582,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895988.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.462C>A",
"hgvs_p": "p.Ile154Ile",
"transcript": "NM_001145149.3",
"protein_id": "NP_001138621.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 179,
"cds_start": 462,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145149.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.459C>A",
"hgvs_p": "p.Ile153Ile",
"transcript": "ENST00000895990.1",
"protein_id": "ENSP00000566049.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 178,
"cds_start": 459,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895990.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.426C>A",
"hgvs_p": "p.Ile142Ile",
"transcript": "ENST00000895989.1",
"protein_id": "ENSP00000566048.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 167,
"cds_start": 426,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895989.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.303C>A",
"hgvs_p": "p.Ile101Ile",
"transcript": "ENST00000942505.1",
"protein_id": "ENSP00000612564.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 126,
"cds_start": 303,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942505.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "c.444C>A",
"hgvs_p": "p.Ile148Ile",
"transcript": "XM_017029760.2",
"protein_id": "XP_016885249.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 173,
"cds_start": 444,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029760.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "n.667C>A",
"hgvs_p": null,
"transcript": "ENST00000463317.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000463317.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "n.706C>A",
"hgvs_p": null,
"transcript": "ENST00000479687.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000479687.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "n.*347C>A",
"hgvs_p": null,
"transcript": "ENST00000488344.6",
"protein_id": "ENSP00000430039.1",
"transcript_support_level": 2,
"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": "ENST00000488344.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "n.640C>A",
"hgvs_p": null,
"transcript": "NR_033714.2",
"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_033714.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "n.633C>A",
"hgvs_p": null,
"transcript": "NR_033715.2",
"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_033715.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"hgvs_c": "n.*347C>A",
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"transcript": "ENST00000488344.6",
"protein_id": "ENSP00000430039.1",
"transcript_support_level": 2,
"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": "ENST00000488344.6"
}
],
"gene_symbol": "VAMP7",
"gene_hgnc_id": 11486,
"dbsnp": "rs138653672",
"frequency_reference_population": 0.000001240107,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84638e-7,
"gnomad_genomes_af": 0.00000657298,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.044149547815322876,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.603,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001185183.2",
"gene_symbol": "VAMP7",
"hgnc_id": 11486,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Arg173Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}