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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: 19-18431408-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18431408&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18431408,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032627.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Pro142Arg",
"transcript": "NM_032627.5",
"protein_id": "NP_116016.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 385,
"cds_start": 425,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270061.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032627.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Pro142Arg",
"transcript": "ENST00000270061.12",
"protein_id": "ENSP00000270061.5",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 385,
"cds_start": 425,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032627.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270061.12"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Pro142Arg",
"transcript": "ENST00000867041.1",
"protein_id": "ENSP00000537100.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 365,
"cds_start": 425,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867041.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Pro142Arg",
"transcript": "ENST00000915353.1",
"protein_id": "ENSP00000585412.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 349,
"cds_start": 425,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915353.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.491C>G",
"hgvs_p": "p.Pro164Arg",
"transcript": "XM_006722665.5",
"protein_id": "XP_006722728.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 457,
"cds_start": 491,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722665.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.458C>G",
"hgvs_p": "p.Pro153Arg",
"transcript": "XM_047438365.1",
"protein_id": "XP_047294321.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 446,
"cds_start": 458,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438365.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Pro142Arg",
"transcript": "XM_006722666.3",
"protein_id": "XP_006722729.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 435,
"cds_start": 425,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722666.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Pro137Arg",
"transcript": "XM_047438368.1",
"protein_id": "XP_047294324.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 430,
"cds_start": 410,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438368.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.491C>G",
"hgvs_p": "p.Pro164Arg",
"transcript": "XM_005259790.4",
"protein_id": "XP_005259847.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 407,
"cds_start": 491,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259790.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Pro137Arg",
"transcript": "XM_047438370.1",
"protein_id": "XP_047294326.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 380,
"cds_start": 410,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438370.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Pro133Arg",
"transcript": "XM_047438371.1",
"protein_id": "XP_047294327.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 376,
"cds_start": 398,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438371.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Pro40Arg",
"transcript": "XM_047438373.1",
"protein_id": "XP_047294329.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 333,
"cds_start": 119,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438373.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Pro40Arg",
"transcript": "XM_047438374.1",
"protein_id": "XP_047294330.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 333,
"cds_start": 119,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438374.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Pro40Arg",
"transcript": "XM_047438375.1",
"protein_id": "XP_047294331.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 283,
"cds_start": 119,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.370-239C>G",
"hgvs_p": null,
"transcript": "ENST00000915352.1",
"protein_id": "ENSP00000585411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.370-239C>G",
"hgvs_p": null,
"transcript": "NM_001009998.4",
"protein_id": "NP_001009998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009998.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.370-239C>G",
"hgvs_p": null,
"transcript": "ENST00000348495.10",
"protein_id": "ENSP00000252807.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348495.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.367-239C>G",
"hgvs_p": null,
"transcript": "ENST00000867042.1",
"protein_id": "ENSP00000537101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.370-239C>G",
"hgvs_p": null,
"transcript": "ENST00000964016.1",
"protein_id": "ENSP00000634075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.370-385C>G",
"hgvs_p": null,
"transcript": "ENST00000964017.1",
"protein_id": "ENSP00000634076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964017.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.280-239C>G",
"hgvs_p": null,
"transcript": "ENST00000964018.1",
"protein_id": "ENSP00000634077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSBP4",
"gene_hgnc_id": 15676,
"hgvs_c": "c.370-239C>G",
"hgvs_p": null,
"transcript": "ENST00000915354.1",
"protein_id": "ENSP00000585413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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}