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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: 17-68515470-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68515470&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68515470,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002734.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_002734.5",
"protein_id": "NP_002725.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000589228.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002734.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000589228.6",
"protein_id": "ENSP00000464977.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002734.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589228.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000358598.6",
"protein_id": "ENSP00000351410.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358598.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000536854.6",
"protein_id": "ENSP00000445625.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536854.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000586397.5",
"protein_id": "ENSP00000466459.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586397.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_001276289.2",
"protein_id": "NP_001263218.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276289.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_001278433.2",
"protein_id": "NP_001265362.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278433.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_001369389.1",
"protein_id": "NP_001356318.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369389.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_001369390.1",
"protein_id": "NP_001356319.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369390.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_212471.3",
"protein_id": "NP_997636.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212471.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_212472.2",
"protein_id": "NP_997637.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212472.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000392711.5",
"protein_id": "ENSP00000376475.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392711.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000585427.6",
"protein_id": "ENSP00000464715.2",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585427.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000588178.6",
"protein_id": "ENSP00000465013.2",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588178.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000589017.6",
"protein_id": "ENSP00000465445.2",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589017.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000589480.6",
"protein_id": "ENSP00000466649.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 381,
"cds_start": 71,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589480.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000592800.6",
"protein_id": "ENSP00000466314.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 349,
"cds_start": 71,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592800.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "NM_001276290.1",
"protein_id": "NP_001263219.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 337,
"cds_start": 71,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276290.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000585981.6",
"protein_id": "ENSP00000467311.2",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 337,
"cds_start": 71,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585981.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000588188.7",
"protein_id": "ENSP00000468106.2",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 337,
"cds_start": 71,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588188.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000711037.1",
"protein_id": "ENSP00000518555.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 337,
"cds_start": 71,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711037.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Lys24Arg",
"transcript": "ENST00000585815.5",
"protein_id": "ENSP00000467867.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 64,
"cds_start": 71,
"cds_end": null,
"cds_length": 196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_score_selected": 0.3202780485153198,
"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": -0.16,
"bayesdelnoaf_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
"score": -2,
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"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_002734.5",
"gene_symbol": "PRKAR1A",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000590353.1",
"gene_symbol": "ENSG00000267009",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " type 1,Acrodysostosis 1 with or without hormone resistance,Carney complex,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Carney complex, type 1|Hereditary cancer-predisposing syndrome|Acrodysostosis 1 with or without hormone resistance|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}