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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: 16-4797966-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4797966&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4797966,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024589.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.667G>T",
"hgvs_p": "p.Ala223Ser",
"transcript": "NM_024589.3",
"protein_id": "NP_078865.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 287,
"cds_start": 667,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322048.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024589.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.667G>T",
"hgvs_p": "p.Ala223Ser",
"transcript": "ENST00000322048.12",
"protein_id": "ENSP00000322832.6",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 287,
"cds_start": 667,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024589.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322048.12"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.667G>T",
"hgvs_p": "p.Ala223Ser",
"transcript": "ENST00000907806.1",
"protein_id": "ENSP00000577865.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 300,
"cds_start": 667,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907806.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.667G>T",
"hgvs_p": "p.Ala223Ser",
"transcript": "ENST00000912071.1",
"protein_id": "ENSP00000582130.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 294,
"cds_start": 667,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912071.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "ENST00000968425.1",
"protein_id": "ENSP00000638484.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 293,
"cds_start": 664,
"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": "ENST00000968425.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.661G>T",
"hgvs_p": "p.Ala221Ser",
"transcript": "ENST00000907805.1",
"protein_id": "ENSP00000577864.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 292,
"cds_start": 661,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907805.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "ENST00000912072.1",
"protein_id": "ENSP00000582131.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 664,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912072.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "ENST00000912073.1",
"protein_id": "ENSP00000582132.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 664,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912073.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.661G>T",
"hgvs_p": "p.Ala221Ser",
"transcript": "ENST00000907810.1",
"protein_id": "ENSP00000577869.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 285,
"cds_start": 661,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907810.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.658G>T",
"hgvs_p": "p.Ala220Ser",
"transcript": "ENST00000907809.1",
"protein_id": "ENSP00000577868.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 284,
"cds_start": 658,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907809.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Ala199Ser",
"transcript": "ENST00000907808.1",
"protein_id": "ENSP00000577867.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 270,
"cds_start": 595,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907808.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Ala199Ser",
"transcript": "ENST00000907804.1",
"protein_id": "ENSP00000577863.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 263,
"cds_start": 595,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907804.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.568G>T",
"hgvs_p": "p.Ala190Ser",
"transcript": "ENST00000968427.1",
"protein_id": "ENSP00000638486.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 254,
"cds_start": 568,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968427.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Ala199Ser",
"transcript": "ENST00000591392.5",
"protein_id": "ENSP00000467509.1",
"transcript_support_level": 3,
"aa_start": 199,
"aa_end": null,
"aa_length": 252,
"cds_start": 595,
"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": "ENST00000591392.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.529G>T",
"hgvs_p": "p.Ala177Ser",
"transcript": "ENST00000907807.1",
"protein_id": "ENSP00000577866.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 241,
"cds_start": 529,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907807.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Ala153Ser",
"transcript": "ENST00000907811.1",
"protein_id": "ENSP00000577870.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 217,
"cds_start": 457,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907811.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Ala118Ser",
"transcript": "ENST00000587711.5",
"protein_id": "ENSP00000467459.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 170,
"cds_start": 352,
"cds_end": null,
"cds_length": 514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587711.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Ala105Ser",
"transcript": "ENST00000586153.1",
"protein_id": "ENSP00000464699.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 121,
"cds_start": 313,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586153.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.667G>T",
"hgvs_p": "p.Ala223Ser",
"transcript": "XM_006720947.5",
"protein_id": "XP_006721010.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 294,
"cds_start": 667,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720947.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.397G>T",
"hgvs_p": "p.Ala133Ser",
"transcript": "XM_047434636.1",
"protein_id": "XP_047290592.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 204,
"cds_start": 397,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.645+105G>T",
"hgvs_p": null,
"transcript": "ENST00000968426.1",
"protein_id": "ENSP00000638485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.423+105G>T",
"hgvs_p": null,
"transcript": "ENST00000586504.5",
"protein_id": "ENSP00000465076.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586504.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
"score": 0,
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 0,
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],
"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Amelocerebrohypohidrotic syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}