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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: 9-35079444-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35079444&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35079444,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004629.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "NM_004629.2",
"protein_id": "NP_004620.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 622,
"cds_start": 81,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378643.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004629.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000378643.8",
"protein_id": "ENSP00000367910.4",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 622,
"cds_start": 81,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004629.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378643.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "n.81C>A",
"hgvs_p": null,
"transcript": "ENST00000425676.5",
"protein_id": "ENSP00000412793.1",
"transcript_support_level": 1,
"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": "ENST00000425676.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000448890.2",
"protein_id": "ENSP00000409607.2",
"transcript_support_level": 3,
"aa_start": 27,
"aa_end": null,
"aa_length": 622,
"cds_start": 81,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448890.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000881804.1",
"protein_id": "ENSP00000551863.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 621,
"cds_start": 81,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881804.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000696710.1",
"protein_id": "ENSP00000512826.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 620,
"cds_start": 81,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696710.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000938586.1",
"protein_id": "ENSP00000608645.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 619,
"cds_start": 81,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938586.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000960438.1",
"protein_id": "ENSP00000630497.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 616,
"cds_start": 81,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960438.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000881805.1",
"protein_id": "ENSP00000551864.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 615,
"cds_start": 81,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881805.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000960443.1",
"protein_id": "ENSP00000630502.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 615,
"cds_start": 81,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960443.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000696715.1",
"protein_id": "ENSP00000512828.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 587,
"cds_start": 81,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696715.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000881807.1",
"protein_id": "ENSP00000551866.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 585,
"cds_start": 81,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881807.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000960441.1",
"protein_id": "ENSP00000630500.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 574,
"cds_start": 81,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960441.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000881806.1",
"protein_id": "ENSP00000551865.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 573,
"cds_start": 81,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881806.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000960439.1",
"protein_id": "ENSP00000630498.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 570,
"cds_start": 81,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960439.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000960442.1",
"protein_id": "ENSP00000630501.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 564,
"cds_start": 81,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960442.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000960440.1",
"protein_id": "ENSP00000630499.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 448,
"cds_start": 81,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "n.557C>A",
"hgvs_p": null,
"transcript": "ENST00000461149.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000461149.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "n.226C>A",
"hgvs_p": null,
"transcript": "ENST00000462124.1",
"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": "retained_intron",
"feature": "ENST00000462124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "n.331C>A",
"hgvs_p": null,
"transcript": "ENST00000696700.1",
"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": "retained_intron",
"feature": "ENST00000696700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "n.296C>A",
"hgvs_p": null,
"transcript": "ENST00000696701.1",
"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": "retained_intron",
"feature": "ENST00000696701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"hgvs_c": "n.81C>A",
"hgvs_p": null,
"transcript": "ENST00000696702.1",
"protein_id": "ENSP00000512821.1",
"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": "ENST00000696702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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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": "FANCG",
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"biotype": "retained_intron",
"feature": "ENST00000696714.1"
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],
"gene_symbol": "FANCG",
"gene_hgnc_id": 3588,
"dbsnp": "rs1060504372",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.16,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_004629.2",
"gene_symbol": "FANCG",
"hgnc_id": 3588,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Ala27Ala"
}
],
"clinvar_disease": "Fanconi anemia,Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Fanconi anemia|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}