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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: 6-166929707-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166929707&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166929707,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003730.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "NM_003730.6",
"protein_id": "NP_003721.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 256,
"cds_start": 652,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508775.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003730.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "ENST00000508775.6",
"protein_id": "ENSP00000426455.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 256,
"cds_start": 652,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003730.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508775.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249141",
"gene_hgnc_id": null,
"hgvs_c": "c.432+4384G>C",
"hgvs_p": null,
"transcript": "ENST00000507747.1",
"protein_id": "ENSP00000426906.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507747.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.790G>C",
"hgvs_p": "p.Glu264Gln",
"transcript": "ENST00000870284.1",
"protein_id": "ENSP00000540343.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 302,
"cds_start": 790,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870284.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Glu255Gln",
"transcript": "ENST00000870283.1",
"protein_id": "ENSP00000540342.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 293,
"cds_start": 763,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870283.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.703G>C",
"hgvs_p": "p.Glu235Gln",
"transcript": "ENST00000870285.1",
"protein_id": "ENSP00000540344.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 273,
"cds_start": 703,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870285.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "ENST00000476238.6",
"protein_id": "ENSP00000422846.1",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 256,
"cds_start": 652,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476238.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "ENST00000870280.1",
"protein_id": "ENSP00000540339.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 256,
"cds_start": 652,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870280.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "ENST00000870281.1",
"protein_id": "ENSP00000540340.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 256,
"cds_start": 652,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870281.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Glu218Gln",
"transcript": "ENST00000478180.6",
"protein_id": "ENSP00000426059.1",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 252,
"cds_start": 652,
"cds_end": null,
"cds_length": 761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478180.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.577G>C",
"hgvs_p": "p.Glu193Gln",
"transcript": "ENST00000870282.1",
"protein_id": "ENSP00000540341.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 231,
"cds_start": 577,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870282.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.538G>C",
"hgvs_p": "p.Glu180Gln",
"transcript": "ENST00000366855.10",
"protein_id": "ENSP00000424947.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 218,
"cds_start": 538,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366855.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.538G>C",
"hgvs_p": "p.Glu180Gln",
"transcript": "ENST00000620173.5",
"protein_id": "ENSP00000482755.2",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 218,
"cds_start": 538,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620173.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.538G>C",
"hgvs_p": "p.Glu180Gln",
"transcript": "ENST00000870279.1",
"protein_id": "ENSP00000540338.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 218,
"cds_start": 538,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870279.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.421G>C",
"hgvs_p": "p.Glu141Gln",
"transcript": "ENST00000951735.1",
"protein_id": "ENSP00000621794.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 179,
"cds_start": 421,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951735.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.406G>C",
"hgvs_p": "p.Glu136Gln",
"transcript": "ENST00000683770.1",
"protein_id": "ENSP00000507710.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 174,
"cds_start": 406,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683770.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.376G>C",
"hgvs_p": "p.Glu126Gln",
"transcript": "ENST00000684236.1",
"protein_id": "ENSP00000508128.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 164,
"cds_start": 376,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684236.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.364G>C",
"hgvs_p": "p.Glu122Gln",
"transcript": "ENST00000951734.1",
"protein_id": "ENSP00000621793.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 160,
"cds_start": 364,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951734.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Glu103Gln",
"transcript": "ENST00000926043.1",
"protein_id": "ENSP00000596102.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 141,
"cds_start": 307,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "n.*440G>C",
"hgvs_p": null,
"transcript": "ENST00000028008.9",
"protein_id": "ENSP00000028008.5",
"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": "ENST00000028008.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "n.*1006G>C",
"hgvs_p": null,
"transcript": "ENST00000421787.5",
"protein_id": "ENSP00000390833.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000421787.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "n.450G>C",
"hgvs_p": null,
"transcript": "ENST00000467705.6",
"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": "ENST00000467705.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}