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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: 7-103298648-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103298648&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 103298648,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001438231.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "NM_004279.3",
"protein_id": "NP_004270.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 489,
"cds_start": 180,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000249269.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004279.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000249269.9",
"protein_id": "ENSP00000249269.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 489,
"cds_start": 180,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004279.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249269.9"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000428154.5",
"protein_id": "ENSP00000390035.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 490,
"cds_start": 180,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428154.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000706454.1",
"protein_id": "ENSP00000516392.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 508,
"cds_start": 180,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706454.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000706453.1",
"protein_id": "ENSP00000516391.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 506,
"cds_start": 180,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706453.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000706442.1",
"protein_id": "ENSP00000516383.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 502,
"cds_start": 180,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706442.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "NM_001438231.1",
"protein_id": "NP_001425160.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 490,
"cds_start": 180,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438231.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000900040.1",
"protein_id": "ENSP00000570099.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 489,
"cds_start": 180,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900040.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000900042.1",
"protein_id": "ENSP00000570101.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 487,
"cds_start": 180,
"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": "ENST00000900042.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000706450.1",
"protein_id": "ENSP00000516388.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 482,
"cds_start": 180,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706450.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000900044.1",
"protein_id": "ENSP00000570103.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 482,
"cds_start": 180,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900044.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000943376.1",
"protein_id": "ENSP00000613435.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 482,
"cds_start": 180,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943376.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000706437.1",
"protein_id": "ENSP00000516380.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 475,
"cds_start": 180,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706437.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000900041.1",
"protein_id": "ENSP00000570100.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 441,
"cds_start": 180,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900041.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000900043.1",
"protein_id": "ENSP00000570102.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 396,
"cds_start": 180,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900043.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "ENST00000706459.1",
"protein_id": "ENSP00000516395.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 382,
"cds_start": 180,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706459.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "XM_005250717.4",
"protein_id": "XP_005250774.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 508,
"cds_start": 180,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250717.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "XM_006716181.5",
"protein_id": "XP_006716244.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 506,
"cds_start": 180,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716181.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "XM_047421050.1",
"protein_id": "XP_047277006.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 506,
"cds_start": 180,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421050.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val",
"transcript": "XM_047421052.1",
"protein_id": "XP_047277008.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 250,
"cds_start": 180,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.100-795A>G",
"hgvs_p": null,
"transcript": "ENST00000915585.1",
"protein_id": "ENSP00000585644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.180A>G",
"hgvs_p": null,
"transcript": "ENST00000443722.5",
"protein_id": "ENSP00000402859.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000443722.5"
},
{
"aa_ref": null,
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"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.*206A>G",
"hgvs_p": null,
"transcript": "ENST00000706460.1",
"protein_id": "ENSP00000516396.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706460.1"
}
],
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"dbsnp": "rs375787139",
"frequency_reference_population": 6.8420417e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84204e-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": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.169,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "PM2,BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001438231.1",
"gene_symbol": "PMPCB",
"hgnc_id": 9119,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Val60Val"
}
],
"clinvar_disease": "PMPCB-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PMPCB-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}