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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: 5-170862046-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=170862046&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 170862046,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022897.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "NM_022897.5",
"protein_id": "NP_075048.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1088,
"cds_start": 13,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000523189.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022897.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "ENST00000523189.6",
"protein_id": "ENSP00000427975.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 1088,
"cds_start": 13,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022897.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523189.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "n.24T>C",
"hgvs_p": null,
"transcript": "ENST00000519130.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000519130.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "ENST00000961946.1",
"protein_id": "ENSP00000632005.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1108,
"cds_start": 13,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961946.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "ENST00000961945.1",
"protein_id": "ENSP00000632004.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1023,
"cds_start": 13,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961945.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_011534627.2",
"protein_id": "XP_011532929.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1092,
"cds_start": 13,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534627.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009736.2",
"protein_id": "XP_016865225.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1052,
"cds_start": 13,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009736.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_047417530.1",
"protein_id": "XP_047273486.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1048,
"cds_start": 13,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417530.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009738.2",
"protein_id": "XP_016865227.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1043,
"cds_start": 13,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009738.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009739.2",
"protein_id": "XP_016865228.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1039,
"cds_start": 13,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009739.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009740.2",
"protein_id": "XP_016865229.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 999,
"cds_start": 13,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009740.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009741.3",
"protein_id": "XP_016865230.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 990,
"cds_start": 13,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009741.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009742.3",
"protein_id": "XP_016865231.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 986,
"cds_start": 13,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009742.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009744.2",
"protein_id": "XP_016865233.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 746,
"cds_start": 13,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009744.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_047417531.1",
"protein_id": "XP_047273487.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 746,
"cds_start": 13,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417531.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_047417532.1",
"protein_id": "XP_047273488.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 706,
"cds_start": 13,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417532.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_011534636.3",
"protein_id": "XP_011532938.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 588,
"cds_start": 13,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534636.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_017009746.3",
"protein_id": "XP_016865235.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 580,
"cds_start": 13,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009746.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Phe5Leu",
"transcript": "XM_011534637.3",
"protein_id": "XP_011532939.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 576,
"cds_start": 13,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534637.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "n.13T>C",
"hgvs_p": null,
"transcript": "ENST00000389118.8",
"protein_id": "ENSP00000373770.4",
"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": "ENST00000389118.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "n.177T>C",
"hgvs_p": null,
"transcript": "ENST00000443155.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000443155.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP17",
"gene_hgnc_id": 14428,
"hgvs_c": "n.13T>C",
"hgvs_p": null,
"transcript": "ENST00000519256.5",
"protein_id": "ENSP00000429298.1",
"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,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.4752,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -9,
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"criteria": [
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"BP6",
"BS2"
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"verdict": "Benign",
"transcript": "NM_022897.5",
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"effects": [
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],
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"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "RANBP17-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}