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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: 20-63439652-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63439652&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63439652,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359125.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "NM_172107.4",
"protein_id": "NP_742105.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 872,
"cds_start": 873,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "ENST00000359125.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000359125.7",
"protein_id": "ENSP00000352035.2",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 872,
"cds_start": 873,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": "NM_172107.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000626839.2",
"protein_id": "ENSP00000486706.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 854,
"cds_start": 873,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000344462.8",
"protein_id": "ENSP00000339611.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 841,
"cds_start": 873,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"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": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000344425.8",
"protein_id": "ENSP00000345523.5",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 393,
"cds_start": 873,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "NM_001382235.1",
"protein_id": "NP_001369164.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 890,
"cds_start": 873,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000706989.1",
"protein_id": "ENSP00000516702.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 890,
"cds_start": 873,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "NM_172106.3",
"protein_id": "NP_742104.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 854,
"cds_start": 873,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "NM_001439003.1",
"protein_id": "NP_001425932.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 853,
"cds_start": 873,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "NM_004518.6",
"protein_id": "NP_004509.2",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 844,
"cds_start": 873,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000360480.7",
"protein_id": "ENSP00000353668.3",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 844,
"cds_start": 873,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "NM_001439004.1",
"protein_id": "NP_001425933.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 843,
"cds_start": 873,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000627221.3",
"protein_id": "ENSP00000487469.2",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 843,
"cds_start": 873,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1065,
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"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "NM_172108.5",
"protein_id": "NP_742106.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 841,
"cds_start": 873,
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"cdna_start": 1065,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000713605.1",
"protein_id": "ENSP00000518901.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 832,
"cds_start": 873,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1065,
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"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000370224.5",
"protein_id": "ENSP00000359244.2",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
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"cdna_start": 1008,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000625514.2",
"protein_id": "ENSP00000486040.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 754,
"cds_start": 873,
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"cds_length": 2265,
"cdna_start": 965,
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"cdna_length": 2925,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000629241.2",
"protein_id": "ENSP00000487142.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 730,
"cds_start": 873,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 965,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000357249.6",
"protein_id": "ENSP00000349789.3",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
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"cds_start": 531,
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},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.354G>T",
"hgvs_p": "p.Arg118Ser",
"transcript": "ENST00000637193.1",
"protein_id": "ENSP00000490734.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 671,
"cds_start": 354,
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"cdna_start": 756,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000629676.2",
"protein_id": "ENSP00000486194.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 645,
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"cdna_start": 965,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.873G>T",
"hgvs_p": "p.Arg291Ser",
"transcript": "ENST00000713606.1",
"protein_id": "ENSP00000518902.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 477,
"cds_start": 873,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ2",
"gene_hgnc_id": 6296,
"hgvs_c": "c.354G>T",
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}