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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: 10-72368235-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72368235&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 72368235,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001441218.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "NM_001195518.2",
"protein_id": "NP_001182447.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361114.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195518.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "ENST00000361114.10",
"protein_id": "ENSP00000354415.5",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195518.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361114.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1622C>T",
"hgvs_p": "p.Ala541Val",
"transcript": "NM_001441218.1",
"protein_id": "NP_001428147.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 553,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441218.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1622C>T",
"hgvs_p": "p.Ala541Val",
"transcript": "ENST00000964210.1",
"protein_id": "ENSP00000634269.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 553,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964210.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"transcript": "NM_001441219.1",
"protein_id": "NP_001428148.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 532,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441219.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"transcript": "ENST00000897977.1",
"protein_id": "ENSP00000568036.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 532,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897977.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Ala482Val",
"transcript": "ENST00000964205.1",
"protein_id": "ENSP00000634264.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 494,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964205.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"transcript": "ENST00000964208.1",
"protein_id": "ENSP00000634267.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 490,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964208.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "ENST00000964209.1",
"protein_id": "ENSP00000634268.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 487,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964209.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ala470Val",
"transcript": "NM_001363513.2",
"protein_id": "NP_001350442.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 482,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363513.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ala470Val",
"transcript": "ENST00000642044.1",
"protein_id": "ENSP00000493232.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 482,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642044.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Ala468Val",
"transcript": "ENST00000635239.1",
"protein_id": "ENSP00000489563.1",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 480,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635239.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Ala468Val",
"transcript": "ENST00000964207.1",
"protein_id": "ENSP00000634266.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 480,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964207.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Ala466Val",
"transcript": "NM_006077.4",
"protein_id": "NP_006068.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 478,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006077.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "NM_001441220.1",
"protein_id": "NP_001428149.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441220.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "NM_001441221.1",
"protein_id": "NP_001428150.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441221.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "NM_001441222.1",
"protein_id": "NP_001428151.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441222.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "NM_001441223.1",
"protein_id": "NP_001428152.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441223.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "ENST00000897972.1",
"protein_id": "ENSP00000568031.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897972.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "ENST00000897973.1",
"protein_id": "ENSP00000568032.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897973.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "ENST00000897974.1",
"protein_id": "ENSP00000568033.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897974.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Ala464Val",
"transcript": "ENST00000897976.1",
"protein_id": "ENSP00000568035.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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],
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{
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},
{
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],
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{
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476605.7"
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],
"gene_symbol": "MICU1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6491684913635254,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.454,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3451,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.968,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001441218.1",
"gene_symbol": "MICU1",
"hgnc_id": 1530,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1622C>T",
"hgvs_p": "p.Ala541Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}