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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: 17-7587492-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7587492&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7587492,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004870.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.685G>C",
"hgvs_p": "p.Ala229Pro",
"transcript": "NM_004870.4",
"protein_id": "NP_004861.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 247,
"cds_start": 685,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250124.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004870.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.685G>C",
"hgvs_p": "p.Ala229Pro",
"transcript": "ENST00000250124.11",
"protein_id": "ENSP00000250124.6",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 247,
"cds_start": 685,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004870.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250124.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.870G>C",
"hgvs_p": null,
"transcript": "ENST00000571877.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571877.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Ala226Pro",
"transcript": "ENST00000853390.1",
"protein_id": "ENSP00000523449.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 244,
"cds_start": 676,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853390.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.661G>C",
"hgvs_p": "p.Ala221Pro",
"transcript": "ENST00000853388.1",
"protein_id": "ENSP00000523447.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 239,
"cds_start": 661,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853388.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Ala218Pro",
"transcript": "ENST00000915186.1",
"protein_id": "ENSP00000585245.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 236,
"cds_start": 652,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915186.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Ala212Pro",
"transcript": "ENST00000853387.1",
"protein_id": "ENSP00000523446.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 230,
"cds_start": 634,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853387.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Ala207Pro",
"transcript": "ENST00000853389.1",
"protein_id": "ENSP00000523448.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 225,
"cds_start": 619,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853389.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.616G>C",
"hgvs_p": "p.Ala206Pro",
"transcript": "ENST00000915187.1",
"protein_id": "ENSP00000585246.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 224,
"cds_start": 616,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915187.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "ENST00000915189.1",
"protein_id": "ENSP00000585248.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 223,
"cds_start": 613,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915189.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Ala202Pro",
"transcript": "ENST00000853391.1",
"protein_id": "ENSP00000523450.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 220,
"cds_start": 604,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853391.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.466G>C",
"hgvs_p": "p.Ala156Pro",
"transcript": "ENST00000915185.1",
"protein_id": "ENSP00000585244.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 174,
"cds_start": 466,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915185.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Ala134Pro",
"transcript": "ENST00000915188.1",
"protein_id": "ENSP00000585247.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 152,
"cds_start": 400,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915188.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.566G>C",
"hgvs_p": "p.Arg189Pro",
"transcript": "XM_006721597.3",
"protein_id": "XP_006721660.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 260,
"cds_start": 566,
"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": "XM_006721597.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.*48G>C",
"hgvs_p": null,
"transcript": "NM_001330073.1",
"protein_id": "NP_001317002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.*48G>C",
"hgvs_p": null,
"transcript": "ENST00000396501.8",
"protein_id": "ENSP00000379758.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396501.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.*48G>C",
"hgvs_p": null,
"transcript": "XM_006721598.4",
"protein_id": "XP_006721661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"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": "XM_006721598.4"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.532+221G>C",
"hgvs_p": null,
"transcript": "ENST00000423172.6",
"protein_id": "ENSP00000414071.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423172.6"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.413+221G>C",
"hgvs_p": null,
"transcript": "ENST00000584378.5",
"protein_id": "ENSP00000462839.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584378.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "c.346-603G>C",
"hgvs_p": null,
"transcript": "ENST00000585217.5",
"protein_id": "ENSP00000463037.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585217.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.*436G>C",
"hgvs_p": null,
"transcript": "ENST00000359822.10",
"protein_id": "ENSP00000352876.6",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000359822.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDU1",
"gene_hgnc_id": 7207,
"hgvs_c": "n.*357G>C",
"hgvs_p": null,
"transcript": "ENST00000570458.5",
"protein_id": "ENSP00000459409.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570458.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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}