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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: 12-21845767-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21845767&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21845767,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005691.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "NM_020297.4",
"protein_id": "NP_064693.2",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261200.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020297.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000261200.9",
"protein_id": "ENSP00000261200.4",
"transcript_support_level": 5,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020297.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261200.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "NM_001377273.1",
"protein_id": "NP_001364202.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377273.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "NM_005691.4",
"protein_id": "NP_005682.2",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005691.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000261201.10",
"protein_id": "ENSP00000261201.4",
"transcript_support_level": 5,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261201.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000879186.1",
"protein_id": "ENSP00000549245.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879186.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000879187.1",
"protein_id": "ENSP00000549246.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879187.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000879188.1",
"protein_id": "ENSP00000549247.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879188.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000879190.1",
"protein_id": "ENSP00000549249.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879190.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000879191.1",
"protein_id": "ENSP00000549250.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879191.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000944975.1",
"protein_id": "ENSP00000615034.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944975.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2929C>A",
"hgvs_p": "p.Pro977Thr",
"transcript": "ENST00000944976.1",
"protein_id": "ENSP00000615035.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1548,
"cds_start": 2929,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944976.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2893C>A",
"hgvs_p": "p.Pro965Thr",
"transcript": "ENST00000879185.1",
"protein_id": "ENSP00000549244.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1536,
"cds_start": 2893,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879185.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2893C>A",
"hgvs_p": "p.Pro965Thr",
"transcript": "ENST00000879189.1",
"protein_id": "ENSP00000549248.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1536,
"cds_start": 2893,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879189.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2893C>A",
"hgvs_p": "p.Pro965Thr",
"transcript": "ENST00000879192.1",
"protein_id": "ENSP00000549251.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1536,
"cds_start": 2893,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879192.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2890C>A",
"hgvs_p": "p.Pro964Thr",
"transcript": "ENST00000944977.1",
"protein_id": "ENSP00000615036.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1535,
"cds_start": 2890,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944977.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2881C>A",
"hgvs_p": "p.Pro961Thr",
"transcript": "ENST00000684084.1",
"protein_id": "ENSP00000507859.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1532,
"cds_start": 2881,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684084.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2842C>A",
"hgvs_p": "p.Pro948Thr",
"transcript": "ENST00000879193.1",
"protein_id": "ENSP00000549252.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1519,
"cds_start": 2842,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879193.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2791C>A",
"hgvs_p": "p.Pro931Thr",
"transcript": "ENST00000944978.1",
"protein_id": "ENSP00000615037.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1502,
"cds_start": 2791,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944978.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000683676.1",
"protein_id": "ENSP00000508167.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1480,
"cds_start": 2932,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683676.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2065C>A",
"hgvs_p": "p.Pro689Thr",
"transcript": "NM_001377274.1",
"protein_id": "NP_001364203.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2065,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377274.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2932C>A",
"hgvs_p": "p.Pro978Thr",
"transcript": "ENST00000682068.1",
"protein_id": "ENSP00000507226.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2932,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2395,
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"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.416,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005691.4",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
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{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000539874.1",
"gene_symbol": "ENSG00000257022",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1O,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|Cardiomyopathy|Dilated cardiomyopathy 1O|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}