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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: 19-19201690-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19201690&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19201690,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003721.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Ser252Gly",
"transcript": "NM_003721.4",
"protein_id": "NP_003712.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 260,
"cds_start": 754,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": "ENST00000303088.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Ser252Gly",
"transcript": "ENST00000303088.9",
"protein_id": "ENSP00000305071.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 260,
"cds_start": 754,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": "NM_003721.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Ser252Gly",
"transcript": "ENST00000407360.7",
"protein_id": "ENSP00000384572.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 260,
"cds_start": 754,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "ENST00000456252.7",
"protein_id": "ENSP00000409138.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 238,
"cds_start": 688,
"cds_end": null,
"cds_length": 717,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ser229Gly",
"transcript": "ENST00000392324.8",
"protein_id": "ENSP00000376138.3",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 237,
"cds_start": 685,
"cds_end": null,
"cds_length": 714,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2AP",
"gene_hgnc_id": 30763,
"hgvs_c": "c.*235T>C",
"hgvs_p": null,
"transcript": "NM_176880.6",
"protein_id": "NP_795361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": "ENST00000331552.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2AP",
"gene_hgnc_id": 30763,
"hgvs_c": "c.*235T>C",
"hgvs_p": null,
"transcript": "ENST00000331552.12",
"protein_id": "ENSP00000332823.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": "NM_176880.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NR2C2AP",
"gene_hgnc_id": 30763,
"hgvs_c": "c.415-127T>C",
"hgvs_p": null,
"transcript": "ENST00000420605.7",
"protein_id": "ENSP00000402756.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Ser277Gly",
"transcript": "NM_001370238.1",
"protein_id": "NP_001357167.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 285,
"cds_start": 829,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Ser276Gly",
"transcript": "NM_001370237.1",
"protein_id": "NP_001357166.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 284,
"cds_start": 826,
"cds_end": null,
"cds_length": 855,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.754A>G",
"hgvs_p": "p.Ser252Gly",
"transcript": "NM_001370233.1",
"protein_id": "NP_001357162.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 260,
"cds_start": 754,
"cds_end": null,
"cds_length": 783,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ser251Gly",
"transcript": "NM_001370235.1",
"protein_id": "NP_001357164.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 259,
"cds_start": 751,
"cds_end": null,
"cds_length": 780,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ser251Gly",
"transcript": "NM_001370236.1",
"protein_id": "NP_001357165.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 259,
"cds_start": 751,
"cds_end": null,
"cds_length": 780,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "NM_001278727.2",
"protein_id": "NP_001265656.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 238,
"cds_start": 688,
"cds_end": null,
"cds_length": 717,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Ser230Gly",
"transcript": "NM_001370234.1",
"protein_id": "NP_001357163.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 238,
"cds_start": 688,
"cds_end": null,
"cds_length": 717,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ser229Gly",
"transcript": "NM_001278728.2",
"protein_id": "NP_001265657.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 237,
"cds_start": 685,
"cds_end": null,
"cds_length": 714,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ser229Gly",
"transcript": "NM_134440.3",
"protein_id": "NP_604389.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 237,
"cds_start": 685,
"cds_end": null,
"cds_length": 714,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.115A>G",
"hgvs_p": "p.Ser39Gly",
"transcript": "ENST00000544923.5",
"protein_id": "ENSP00000441042.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 47,
"cds_start": 115,
"cds_end": null,
"cds_length": 144,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Ser277Gly",
"transcript": "XM_047439586.1",
"protein_id": "XP_047295542.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 285,
"cds_start": 829,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Ser277Gly",
"transcript": "XM_047439587.1",
"protein_id": "XP_047295543.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 285,
"cds_start": 829,
"cds_end": null,
"cds_length": 858,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Ser277Gly",
"transcript": "XM_047439588.1",
"protein_id": "XP_047295544.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 285,
"cds_start": 829,
"cds_end": null,
"cds_length": 858,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Ser276Gly",
"transcript": "XM_047439589.1",
"protein_id": "XP_047295545.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 284,
"cds_start": 826,
"cds_end": null,
"cds_length": 855,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Ser276Gly",
"transcript": "XM_047439590.1",
"protein_id": "XP_047295546.1",
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{
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{
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],
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"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}