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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: 1-6090409-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6090409&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6090409,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000378083.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179*",
"transcript": "NM_001199862.2",
"protein_id": "NP_001186791.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 415,
"cds_start": 535,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": "ENST00000378083.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179*",
"transcript": "ENST00000378083.8",
"protein_id": "ENSP00000367323.3",
"transcript_support_level": 2,
"aa_start": 179,
"aa_end": null,
"aa_length": 415,
"cds_start": 535,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": "NM_001199862.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000341524.6",
"protein_id": "ENSP00000340824.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 382,
"cds_start": 436,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000378097.6",
"protein_id": "ENSP00000367337.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132*",
"transcript": "ENST00000352527.6",
"protein_id": "ENSP00000318772.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 353,
"cds_start": 394,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177*",
"transcript": "ENST00000662363.1",
"protein_id": "ENSP00000499349.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 398,
"cds_start": 529,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000602612.5",
"protein_id": "ENSP00000473602.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 395,
"cds_start": 436,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000668559.1",
"protein_id": "ENSP00000499361.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 395,
"cds_start": 436,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "NM_001199860.2",
"protein_id": "NP_001186789.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 3869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "NM_001199861.2",
"protein_id": "NP_001186790.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "NM_003636.4",
"protein_id": "NP_003627.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000164247.5",
"protein_id": "ENSP00000164247.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000378092.6",
"protein_id": "ENSP00000367332.2",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000428161.7",
"protein_id": "ENSP00000400285.2",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000671676.1",
"protein_id": "ENSP00000499496.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 436,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132*",
"transcript": "NM_172130.3",
"protein_id": "NP_742128.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 353,
"cds_start": 394,
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"cdna_start": 559,
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"cdna_length": 3833,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132*",
"transcript": "ENST00000666163.1",
"protein_id": "ENSP00000499370.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 353,
"cds_start": 394,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132*",
"transcript": "ENST00000669250.1",
"protein_id": "ENSP00000499485.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 353,
"cds_start": 394,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132*",
"transcript": "ENST00000653262.1",
"protein_id": "ENSP00000499434.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 328,
"cds_start": 394,
"cds_end": null,
"cds_length": 987,
"cdna_start": 524,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79*",
"transcript": "NM_001199863.2",
"protein_id": "NP_001186792.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 300,
"cds_start": 235,
"cds_end": null,
"cds_length": 903,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79*",
"transcript": "ENST00000458166.6",
"protein_id": "ENSP00000396167.2",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 300,
"cds_start": 235,
"cds_end": null,
"cds_length": 903,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146*",
"transcript": "ENST00000378111.6",
"protein_id": "ENSP00000367351.2",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 156,
"cds_start": 436,
"cds_end": null,
"cds_length": 473,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB2",
"gene_hgnc_id": 6229,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79*",
"transcript": "ENST00000389632.9",
"protein_id": "ENSP00000374283.5",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 151,
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}