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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: 13-50949483-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=50949483&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 50949483,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000336617.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "NM_024570.4",
"protein_id": "NP_078846.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 312,
"cds_start": 719,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": "ENST00000336617.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "ENST00000336617.8",
"protein_id": "ENSP00000337623.2",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 312,
"cds_start": 719,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": "NM_024570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "ENST00000646960.1",
"protein_id": "ENSP00000496481.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 355,
"cds_start": 719,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Ser210*",
"transcript": "ENST00000643159.1",
"protein_id": "ENSP00000495587.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 324,
"cds_start": 629,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "ENST00000642721.1",
"protein_id": "ENSP00000495650.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 319,
"cds_start": 719,
"cds_end": null,
"cds_length": 960,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ser247*",
"transcript": "ENST00000713971.1",
"protein_id": "ENSP00000519263.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 319,
"cds_start": 740,
"cds_end": null,
"cds_length": 960,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.710C>G",
"hgvs_p": "p.Ser237*",
"transcript": "ENST00000645188.1",
"protein_id": "ENSP00000496224.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 309,
"cds_start": 710,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Ser228*",
"transcript": "ENST00000643774.1",
"protein_id": "ENSP00000495482.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 300,
"cds_start": 683,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "ENST00000643682.1",
"protein_id": "ENSP00000493655.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 293,
"cds_start": 719,
"cds_end": null,
"cds_length": 882,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "ENST00000616907.2",
"protein_id": "ENSP00000482701.2",
"transcript_support_level": 3,
"aa_start": 240,
"aa_end": null,
"aa_length": 289,
"cds_start": 719,
"cds_end": null,
"cds_length": 870,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "ENST00000645955.1",
"protein_id": "ENSP00000495755.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 289,
"cds_start": 719,
"cds_end": null,
"cds_length": 870,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Ser210*",
"transcript": "ENST00000611510.5",
"protein_id": "ENSP00000481236.3",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Ser210*",
"transcript": "ENST00000637648.3",
"protein_id": "ENSP00000490077.3",
"transcript_support_level": 3,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Ser210*",
"transcript": "ENST00000646709.1",
"protein_id": "ENSP00000495278.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Ser210*",
"transcript": "ENST00000713976.1",
"protein_id": "ENSP00000519267.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"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": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.602C>G",
"hgvs_p": "p.Ser201*",
"transcript": "ENST00000642995.1",
"protein_id": "ENSP00000493499.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 273,
"cds_start": 602,
"cds_end": null,
"cds_length": 822,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Ser228*",
"transcript": "ENST00000645370.2",
"protein_id": "ENSP00000494019.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 683,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Ser228*",
"transcript": "ENST00000643215.2",
"protein_id": "ENSP00000495031.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 269,
"cds_start": 683,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "NM_001411023.1",
"protein_id": "NP_001397952.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 266,
"cds_start": 719,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "ENST00000645990.1",
"protein_id": "ENSP00000496571.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 266,
"cds_start": 719,
"cds_end": null,
"cds_length": 801,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.629C>G",
"hgvs_p": "p.Ser210*",
"transcript": "ENST00000645618.1",
"protein_id": "ENSP00000495429.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 263,
"cds_start": 629,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240*",
"transcript": "NM_001142279.2",
"protein_id": "NP_001135751.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.719C>G",
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
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}