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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-153949381-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153949381&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153949381,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001440843.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6074C>G",
"hgvs_p": "p.Ser2025Cys",
"transcript": "NM_005334.3",
"protein_id": "NP_005325.2",
"transcript_support_level": null,
"aa_start": 2025,
"aa_end": null,
"aa_length": 2035,
"cds_start": 6074,
"cds_end": null,
"cds_length": 6108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310441.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005334.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6074C>G",
"hgvs_p": "p.Ser2025Cys",
"transcript": "ENST00000310441.12",
"protein_id": "ENSP00000309555.7",
"transcript_support_level": 1,
"aa_start": 2025,
"aa_end": null,
"aa_length": 2035,
"cds_start": 6074,
"cds_end": null,
"cds_length": 6108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005334.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310441.12"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6215C>G",
"hgvs_p": "p.Ser2072Cys",
"transcript": "NM_001440843.1",
"protein_id": "NP_001427772.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2082,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440843.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6215C>G",
"hgvs_p": "p.Ser2072Cys",
"transcript": "ENST00000925202.1",
"protein_id": "ENSP00000595261.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2082,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925202.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6209C>G",
"hgvs_p": "p.Ser2070Cys",
"transcript": "NM_001410705.1",
"protein_id": "NP_001397634.1",
"transcript_support_level": null,
"aa_start": 2070,
"aa_end": null,
"aa_length": 2080,
"cds_start": 6209,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410705.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6209C>G",
"hgvs_p": "p.Ser2070Cys",
"transcript": "ENST00000369984.4",
"protein_id": "ENSP00000359001.4",
"transcript_support_level": 5,
"aa_start": 2070,
"aa_end": null,
"aa_length": 2080,
"cds_start": 6209,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369984.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6206C>G",
"hgvs_p": "p.Ser2069Cys",
"transcript": "NM_001440844.1",
"protein_id": "NP_001427773.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2079,
"cds_start": 6206,
"cds_end": null,
"cds_length": 6240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440844.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6206C>G",
"hgvs_p": "p.Ser2069Cys",
"transcript": "NM_001440845.1",
"protein_id": "NP_001427774.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2079,
"cds_start": 6206,
"cds_end": null,
"cds_length": 6240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440845.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6206C>G",
"hgvs_p": "p.Ser2069Cys",
"transcript": "ENST00000925198.1",
"protein_id": "ENSP00000595257.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2079,
"cds_start": 6206,
"cds_end": null,
"cds_length": 6240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925198.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6203C>G",
"hgvs_p": "p.Ser2068Cys",
"transcript": "NM_001440846.1",
"protein_id": "NP_001427775.1",
"transcript_support_level": null,
"aa_start": 2068,
"aa_end": null,
"aa_length": 2078,
"cds_start": 6203,
"cds_end": null,
"cds_length": 6237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440846.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6203C>G",
"hgvs_p": "p.Ser2068Cys",
"transcript": "ENST00000925201.1",
"protein_id": "ENSP00000595260.1",
"transcript_support_level": null,
"aa_start": 2068,
"aa_end": null,
"aa_length": 2078,
"cds_start": 6203,
"cds_end": null,
"cds_length": 6237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925201.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6185C>G",
"hgvs_p": "p.Ser2062Cys",
"transcript": "ENST00000925204.1",
"protein_id": "ENSP00000595263.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 2072,
"cds_start": 6185,
"cds_end": null,
"cds_length": 6219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925204.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6086C>G",
"hgvs_p": "p.Ser2029Cys",
"transcript": "NM_001440847.1",
"protein_id": "NP_001427776.1",
"transcript_support_level": null,
"aa_start": 2029,
"aa_end": null,
"aa_length": 2039,
"cds_start": 6086,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440847.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6086C>G",
"hgvs_p": "p.Ser2029Cys",
"transcript": "ENST00000925203.1",
"protein_id": "ENSP00000595262.1",
"transcript_support_level": null,
"aa_start": 2029,
"aa_end": null,
"aa_length": 2039,
"cds_start": 6086,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925203.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6083C>G",
"hgvs_p": "p.Ser2028Cys",
"transcript": "NM_001440848.1",
"protein_id": "NP_001427777.1",
"transcript_support_level": null,
"aa_start": 2028,
"aa_end": null,
"aa_length": 2038,
"cds_start": 6083,
"cds_end": null,
"cds_length": 6117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440848.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6083C>G",
"hgvs_p": "p.Ser2028Cys",
"transcript": "ENST00000925197.1",
"protein_id": "ENSP00000595256.1",
"transcript_support_level": null,
"aa_start": 2028,
"aa_end": null,
"aa_length": 2038,
"cds_start": 6083,
"cds_end": null,
"cds_length": 6117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925197.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6077C>G",
"hgvs_p": "p.Ser2026Cys",
"transcript": "NM_001440849.1",
"protein_id": "NP_001427778.1",
"transcript_support_level": null,
"aa_start": 2026,
"aa_end": null,
"aa_length": 2036,
"cds_start": 6077,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440849.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6071C>G",
"hgvs_p": "p.Ser2024Cys",
"transcript": "ENST00000925200.1",
"protein_id": "ENSP00000595259.1",
"transcript_support_level": null,
"aa_start": 2024,
"aa_end": null,
"aa_length": 2034,
"cds_start": 6071,
"cds_end": null,
"cds_length": 6105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925200.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6053C>G",
"hgvs_p": "p.Ser2018Cys",
"transcript": "ENST00000925205.1",
"protein_id": "ENSP00000595264.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2028,
"cds_start": 6053,
"cds_end": null,
"cds_length": 6087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925205.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.6008C>G",
"hgvs_p": "p.Ser2003Cys",
"transcript": "NM_001440850.1",
"protein_id": "NP_001427779.1",
"transcript_support_level": null,
"aa_start": 2003,
"aa_end": null,
"aa_length": 2013,
"cds_start": 6008,
"cds_end": null,
"cds_length": 6042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440850.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.5876C>G",
"hgvs_p": "p.Ser1959Cys",
"transcript": "NM_001440851.1",
"protein_id": "NP_001427780.1",
"transcript_support_level": null,
"aa_start": 1959,
"aa_end": null,
"aa_length": 1969,
"cds_start": 5876,
"cds_end": null,
"cds_length": 5910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440851.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HCFC1",
"gene_hgnc_id": 4839,
"hgvs_c": "c.5876C>G",
"hgvs_p": "p.Ser1959Cys",
"transcript": "ENST00000925199.1",
"protein_id": "ENSP00000595258.1",
"transcript_support_level": null,
"aa_start": 1959,
"aa_end": null,
"aa_length": 1969,
"cds_start": 5876,
"cds_end": null,
"cds_length": 5910,
"cdna_start": null,
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{
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],
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001440843.1",
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"effects": [
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],
"inheritance_mode": "XL",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}