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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: 3-78600219-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=78600219&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 78600219,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_002941.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4835C>G",
"hgvs_p": "p.Ser1612*",
"transcript": "NM_002941.4",
"protein_id": "NP_002932.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4835,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5132,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "ENST00000464233.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4835C>G",
"hgvs_p": "p.Ser1612*",
"transcript": "ENST00000464233.6",
"protein_id": "ENSP00000420321.1",
"transcript_support_level": 5,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4835,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5132,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "NM_002941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4700C>G",
"hgvs_p": "p.Ser1567*",
"transcript": "ENST00000495273.5",
"protein_id": "ENSP00000420637.1",
"transcript_support_level": 1,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4700,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5254,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4535C>G",
"hgvs_p": "p.Ser1512*",
"transcript": "ENST00000467549.5",
"protein_id": "ENSP00000417992.1",
"transcript_support_level": 1,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4535,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4618,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4700C>G",
"hgvs_p": "p.Ser1567*",
"transcript": "NM_133631.4",
"protein_id": "NP_598334.2",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4700,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5698,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4535C>G",
"hgvs_p": "p.Ser1512*",
"transcript": "NM_001145845.2",
"protein_id": "NP_001139317.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4535,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5533,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4475C>G",
"hgvs_p": "p.Ser1492*",
"transcript": "ENST00000436010.6",
"protein_id": "ENSP00000406043.3",
"transcript_support_level": 5,
"aa_start": 1492,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4475,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 5713,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4457C>G",
"hgvs_p": "p.Ser1486*",
"transcript": "ENST00000618846.4",
"protein_id": "ENSP00000482448.1",
"transcript_support_level": 5,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4457,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 5695,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4844C>G",
"hgvs_p": "p.Ser1615*",
"transcript": "XM_011533976.1",
"protein_id": "XP_011532278.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4844,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5141,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4844C>G",
"hgvs_p": "p.Ser1615*",
"transcript": "XM_011533977.3",
"protein_id": "XP_011532279.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4844,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5432,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4817C>G",
"hgvs_p": "p.Ser1606*",
"transcript": "XM_011533978.1",
"protein_id": "XP_011532280.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4817,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 5114,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4808C>G",
"hgvs_p": "p.Ser1603*",
"transcript": "XM_047448661.1",
"protein_id": "XP_047304617.1",
"transcript_support_level": null,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4808,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 5105,
"cdna_end": null,
"cdna_length": 6900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4760C>G",
"hgvs_p": "p.Ser1587*",
"transcript": "XM_017006982.2",
"protein_id": "XP_016862471.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4760,
"cds_end": null,
"cds_length": 4881,
"cdna_start": 5057,
"cdna_end": null,
"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4727C>G",
"hgvs_p": "p.Ser1576*",
"transcript": "XM_006713277.4",
"protein_id": "XP_006713340.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1615,
"cds_start": 4727,
"cds_end": null,
"cds_length": 4848,
"cdna_start": 5725,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4721C>G",
"hgvs_p": "p.Ser1574*",
"transcript": "XM_047448662.1",
"protein_id": "XP_047304618.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4721,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4739,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4718C>G",
"hgvs_p": "p.Ser1573*",
"transcript": "XM_017006983.3",
"protein_id": "XP_016862472.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4718,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 5716,
"cdna_end": null,
"cdna_length": 7511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4691C>G",
"hgvs_p": "p.Ser1564*",
"transcript": "XM_047448663.1",
"protein_id": "XP_047304619.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4691,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 5689,
"cdna_end": null,
"cdna_length": 7484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4679C>G",
"hgvs_p": "p.Ser1560*",
"transcript": "XM_011533979.1",
"protein_id": "XP_011532281.1",
"transcript_support_level": null,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4679,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 4976,
"cdna_end": null,
"cdna_length": 6771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4670C>G",
"hgvs_p": "p.Ser1557*",
"transcript": "XM_017006984.1",
"protein_id": "XP_016862473.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1596,
"cds_start": 4670,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 4967,
"cdna_end": null,
"cdna_length": 6762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4652C>G",
"hgvs_p": "p.Ser1551*",
"transcript": "XM_011533980.1",
"protein_id": "XP_011532282.1",
"transcript_support_level": null,
"aa_start": 1551,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4652,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4949,
"cdna_end": null,
"cdna_length": 6744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4643C>G",
"hgvs_p": "p.Ser1548*",
"transcript": "XM_047448664.1",
"protein_id": "XP_047304620.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4643,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 4940,
"cdna_end": null,
"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4526C>G",
"hgvs_p": "p.Ser1509*",
"transcript": "XM_047448665.1",
"protein_id": "XP_047304621.1",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4526,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 5524,
"cdna_end": null,
"cdna_length": 7319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
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{
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}
],
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"dbsnp": "rs1402585434",
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"gnomad_exomes_af": 6.84401e-7,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.91,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
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"criteria": [
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"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_002941.4",
"gene_symbol": "ROBO1",
"hgnc_id": 10249,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4835C>G",
"hgvs_p": "p.Ser1612*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}