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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: 20-13785077-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=13785077&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 13785077,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_024120.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "NM_024120.5",
"protein_id": "NP_077025.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 345,
"cds_start": 9,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378106.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024120.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "ENST00000378106.10",
"protein_id": "ENSP00000367346.5",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 345,
"cds_start": 9,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024120.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378106.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "ENST00000463598.1",
"protein_id": "ENSP00000420497.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 317,
"cds_start": 9,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463598.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "ENST00000874783.1",
"protein_id": "ENSP00000544842.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 387,
"cds_start": 9,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874783.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "ENST00000934787.1",
"protein_id": "ENSP00000604846.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 335,
"cds_start": 9,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934787.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "NM_001039375.3",
"protein_id": "NP_001034464.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 317,
"cds_start": 9,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039375.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "ENST00000949288.1",
"protein_id": "ENSP00000619347.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 315,
"cds_start": 9,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949288.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "NM_001352408.2",
"protein_id": "NP_001339337.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 247,
"cds_start": 9,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352408.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "ENST00000874782.1",
"protein_id": "ENSP00000544841.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 215,
"cds_start": 9,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874782.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "XM_047440469.1",
"protein_id": "XP_047296425.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 317,
"cds_start": 9,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440469.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "XM_011529342.3",
"protein_id": "XP_011527644.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 299,
"cds_start": 9,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529342.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.9G>A",
"hgvs_p": "p.Arg3Arg",
"transcript": "XM_047440470.1",
"protein_id": "XP_047296426.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 219,
"cds_start": 9,
"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": "XM_047440470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.-359G>A",
"hgvs_p": null,
"transcript": "NM_001352403.2",
"protein_id": "NP_001339332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352403.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.-573G>A",
"hgvs_p": null,
"transcript": "NM_001352406.2",
"protein_id": "NP_001339335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352406.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.-687G>A",
"hgvs_p": null,
"transcript": "NM_001352407.2",
"protein_id": "NP_001339336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352407.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.-493G>A",
"hgvs_p": null,
"transcript": "XM_006723624.3",
"protein_id": "XP_006723687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723624.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ESF1",
"gene_hgnc_id": 15898,
"hgvs_c": "c.-44+202C>T",
"hgvs_p": null,
"transcript": "ENST00000874578.1",
"protein_id": "ENSP00000544637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.9G>A",
"hgvs_p": null,
"transcript": "ENST00000378081.9",
"protein_id": "ENSP00000437325.1",
"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": "ENST00000378081.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.8G>A",
"hgvs_p": null,
"transcript": "ENST00000485738.5",
"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": "ENST00000485738.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "NR_029377.2",
"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_029377.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "NR_147978.2",
"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_147978.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "NR_147979.2",
"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_147979.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"consequences": [
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{
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not provided|Mitochondrial complex I deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}