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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: 3-69028258-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69028258&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69028258,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363879.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Val878Leu",
"transcript": "NM_007114.3",
"protein_id": "NP_009045.2",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398559.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007114.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Val878Leu",
"transcript": "ENST00000398559.7",
"protein_id": "ENSP00000381567.2",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007114.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398559.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2647G>C",
"hgvs_p": "p.Val883Leu",
"transcript": "ENST00000948167.1",
"protein_id": "ENSP00000618226.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948167.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2641G>C",
"hgvs_p": "p.Val881Leu",
"transcript": "NM_001363879.1",
"protein_id": "NP_001350808.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2641,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363879.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2641G>C",
"hgvs_p": "p.Val881Leu",
"transcript": "ENST00000646708.1",
"protein_id": "ENSP00000494067.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2641,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646708.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2629G>C",
"hgvs_p": "p.Val877Leu",
"transcript": "ENST00000936590.1",
"protein_id": "ENSP00000606649.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2629,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936590.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Val878Leu",
"transcript": "ENST00000948162.1",
"protein_id": "ENSP00000618221.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948162.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2641G>C",
"hgvs_p": "p.Val881Leu",
"transcript": "ENST00000948166.1",
"protein_id": "ENSP00000618225.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2641,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948166.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Val878Leu",
"transcript": "ENST00000948164.1",
"protein_id": "ENSP00000618223.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948164.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Val878Leu",
"transcript": "ENST00000948163.1",
"protein_id": "ENSP00000618222.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948163.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2308G>C",
"hgvs_p": "p.Val770Leu",
"transcript": "ENST00000646304.1",
"protein_id": "ENSP00000496378.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 985,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646304.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Val765Leu",
"transcript": "ENST00000948165.1",
"protein_id": "ENSP00000618224.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 980,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.*117G>C",
"hgvs_p": null,
"transcript": "ENST00000488010.5",
"protein_id": "ENSP00000419330.1",
"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": "ENST00000488010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.*117G>C",
"hgvs_p": null,
"transcript": "ENST00000488010.5",
"protein_id": "ENSP00000419330.1",
"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": "ENST00000488010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.261+14057C>G",
"hgvs_p": null,
"transcript": "ENST00000482368.2",
"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": "ENST00000482368.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.38+14057C>G",
"hgvs_p": null,
"transcript": "ENST00000595925.1",
"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": "pseudogene",
"feature": "ENST00000595925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.71+14198C>G",
"hgvs_p": null,
"transcript": "ENST00000596523.5",
"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": "ENST00000596523.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.61-6717C>G",
"hgvs_p": null,
"transcript": "ENST00000596732.5",
"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": "ENST00000596732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.39-1607C>G",
"hgvs_p": null,
"transcript": "ENST00000597366.5",
"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": "ENST00000597366.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.219-1607C>G",
"hgvs_p": null,
"transcript": "ENST00000597950.5",
"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": "ENST00000597950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.142-6717C>G",
"hgvs_p": null,
"transcript": "ENST00000598783.5",
"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": "ENST00000598783.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.39-6717C>G",
"hgvs_p": null,
"transcript": "ENST00000599467.5",
"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": "ENST00000599467.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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{
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],
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"computational_score_selected": 0.11652693152427673,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 0,
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"intron_variant"
],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}