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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: 19-19201711-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19201711&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19201711,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001370238.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "NM_003721.4",
"protein_id": "NP_003712.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303088.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003721.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000303088.9",
"protein_id": "ENSP00000305071.2",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003721.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303088.9"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000407360.7",
"protein_id": "ENSP00000384572.3",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407360.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.709C>G",
"hgvs_p": "p.Pro237Ala",
"transcript": "ENST00000456252.7",
"protein_id": "ENSP00000409138.2",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 238,
"cds_start": 709,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456252.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.706C>G",
"hgvs_p": "p.Pro236Ala",
"transcript": "ENST00000392324.8",
"protein_id": "ENSP00000376138.3",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 237,
"cds_start": 706,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392324.8"
},
{
"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.*214G>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": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331552.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176880.6"
},
{
"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.*214G>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": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_176880.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331552.12"
},
{
"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.415-148G>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": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420605.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.850C>G",
"hgvs_p": "p.Pro284Ala",
"transcript": "NM_001370238.1",
"protein_id": "NP_001357167.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 285,
"cds_start": 850,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370238.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.847C>G",
"hgvs_p": "p.Pro283Ala",
"transcript": "NM_001370237.1",
"protein_id": "NP_001357166.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 284,
"cds_start": 847,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370237.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "NM_001370233.1",
"protein_id": "NP_001357162.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370233.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000892597.1",
"protein_id": "ENSP00000562656.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892597.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFXANK",
"gene_hgnc_id": 9987,
"hgvs_c": "c.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000943476.1",
"protein_id": "ENSP00000613535.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943476.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000943477.1",
"protein_id": "ENSP00000613536.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943477.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000943479.1",
"protein_id": "ENSP00000613538.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943479.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.775C>G",
"hgvs_p": "p.Pro259Ala",
"transcript": "ENST00000943480.1",
"protein_id": "ENSP00000613539.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 260,
"cds_start": 775,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943480.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.772C>G",
"hgvs_p": "p.Pro258Ala",
"transcript": "NM_001370235.1",
"protein_id": "NP_001357164.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 259,
"cds_start": 772,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370235.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.772C>G",
"hgvs_p": "p.Pro258Ala",
"transcript": "NM_001370236.1",
"protein_id": "NP_001357165.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 259,
"cds_start": 772,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370236.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.772C>G",
"hgvs_p": "p.Pro258Ala",
"transcript": "ENST00000892592.1",
"protein_id": "ENSP00000562651.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 259,
"cds_start": 772,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892592.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.772C>G",
"hgvs_p": "p.Pro258Ala",
"transcript": "ENST00000892593.1",
"protein_id": "ENSP00000562652.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 259,
"cds_start": 772,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892593.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.772C>G",
"hgvs_p": "p.Pro258Ala",
"transcript": "ENST00000892594.1",
"protein_id": "ENSP00000562653.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 259,
"cds_start": 772,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892594.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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.772C>G",
"hgvs_p": "p.Pro258Ala",
"transcript": "ENST00000892595.1",
"protein_id": "ENSP00000562654.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 259,
"cds_start": 772,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892595.1"
},
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{
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{
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}
],
"message": null
}